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: 5
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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
Invitae RCV001474514 SCV001678685 likely benign Hypertrophic cardiomyopathy 2023-01-10 criteria provided, single submitter clinical testing
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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