ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1632C>T (p.Thr544=)

gnomAD frequency: 0.00003  dbSNP: rs587781089
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127026 SCV000170559 benign not specified 2014-03-13 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.
Ambry Genetics RCV000621801 SCV000737134 likely benign Cardiovascular phenotype 2016-07-28 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001086975 SCV000749997 likely benign Hypertrophic cardiomyopathy 2023-08-27 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000788506 SCV000927651 uncertain significance not provided 2018-04-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001184230 SCV001350170 likely benign Cardiomyopathy 2019-08-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001184230 SCV004818612 likely benign Cardiomyopathy 2023-05-04 criteria provided, single submitter clinical testing

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