ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5070C>G (p.Ala1690=)

gnomAD frequency: 0.00003  dbSNP: rs764844610
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000609809 SCV000721099 likely benign not specified 2017-07-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV001181863 SCV001347107 likely benign Cardiomyopathy 2019-12-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001474514 SCV001678685 likely benign Hypertrophic cardiomyopathy 2023-01-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001181863 SCV004819167 likely benign Cardiomyopathy 2023-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024940 SCV005033794 likely benign Cardiovascular phenotype 2023-12-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Clinical Genetics, Academic Medical Center RCV000609809 SCV001979065 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001729654 SCV001979662 likely benign not provided no assertion criteria provided clinical testing

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