![Frontiers | An Initial Survey of the Performances of Exome Variant Analysis and Clinical Reporting Among Diagnostic Laboratories in China | Genetics Frontiers | An Initial Survey of the Performances of Exome Variant Analysis and Clinical Reporting Among Diagnostic Laboratories in China | Genetics](https://www.frontiersin.org/files/Articles/582637/fgene-11-582637-HTML/image_m/fgene-11-582637-g001.jpg)
Frontiers | An Initial Survey of the Performances of Exome Variant Analysis and Clinical Reporting Among Diagnostic Laboratories in China | Genetics
![Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks. - Abstract - Europe PMC Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks. - Abstract - Europe PMC](https://europepmc.org/articles/PMC6548460/bin/nihms-1031518-f0002.jpg)
Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks. - Abstract - Europe PMC
![Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation | Genome Medicine | Full Text Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation | Genome Medicine | Full Text](https://media.springernature.com/lw685/springer-static/image/art%3A10.1186%2Fs13073-019-0698-7/MediaObjects/13073_2019_698_Fig1_HTML.png)
Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation | Genome Medicine | Full Text
![Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks. - Abstract - Europe PMC Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks. - Abstract - Europe PMC](https://europepmc.org/articles/PMC6548460/bin/nihms-1031518-f0001.jpg)
Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks. - Abstract - Europe PMC
![The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene | Semantic Scholar The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene | Semantic Scholar](https://d3i71xaburhd42.cloudfront.net/3a993a31f9228095647cfc5b144a22845c860642/7-Table3-1.png)
The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene | Semantic Scholar
![Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology | Genetics in Medicine Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology | Genetics in Medicine](https://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fgim.2015.30/MediaObjects/41436_2015_Article_BFgim201530_Fig1_HTML.jpg)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology | Genetics in Medicine
![PDF] Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. | Semantic Scholar PDF] Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. | Semantic Scholar](https://d3i71xaburhd42.cloudfront.net/e88183119a306b30937f18b6edba21a801545215/1-Figure1-1.png)
PDF] Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. | Semantic Scholar
![PDF) Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework PDF) Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework](https://www.researchgate.net/publication/338344809/figure/tbl1/AS:845288428281856@1578543874244/Evidence-strength-equivalent-of-odds-of-pathogenicity_Q320.jpg)
PDF) Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
![Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks. - Abstract - Europe PMC Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks. - Abstract - Europe PMC](https://europepmc.org/articles/PMC6548460/bin/nihms-1031518-f0003.jpg)
Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks. - Abstract - Europe PMC
![Clinical Interpretation of Sequence Variants - Zhang - 2020 - Current Protocols in Human Genetics - Wiley Online Library Clinical Interpretation of Sequence Variants - Zhang - 2020 - Current Protocols in Human Genetics - Wiley Online Library](https://currentprotocols.onlinelibrary.wiley.com/cms/asset/4f0cf8b2-4a88-445b-bcfc-b90768f07890/cphg98-fig-0001-m.jpg)
Clinical Interpretation of Sequence Variants - Zhang - 2020 - Current Protocols in Human Genetics - Wiley Online Library
![Detailed criteria for functional evidences PS3 and BS3 based on RNA... | Download Scientific Diagram Detailed criteria for functional evidences PS3 and BS3 based on RNA... | Download Scientific Diagram](https://www.researchgate.net/publication/347576170/figure/tbl3/AS:1021008064544770@1620438700853/Detailed-criteria-for-functional-evidences-PS3-and-BS3-based-on-RNA-splicing-studies.png)
Detailed criteria for functional evidences PS3 and BS3 based on RNA... | Download Scientific Diagram
![Genes | Free Full-Text | GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort | HTML Genes | Free Full-Text | GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort | HTML](https://www.mdpi.com/genes/genes-11-01233/article_deploy/html/images/genes-11-01233-g005.png)
Genes | Free Full-Text | GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort | HTML
![PDF) Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework PDF) Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework](https://i1.rgstatic.net/publication/338344809_Recommendations_for_application_of_the_functional_evidence_PS3BS3_criterion_using_the_ACMGAMP_sequence_variant_interpretation_framework/links/5e16aafe4585159aa4c0013d/largepreview.png)
PDF) Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
![Navigating the nuances of clinical sequence variant interpretation in Mendelian disease - ScienceDirect Navigating the nuances of clinical sequence variant interpretation in Mendelian disease - ScienceDirect](https://ars.els-cdn.com/content/image/1-s2.0-S1098360021017664-gr1.jpg)