ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2301C>T (p.Ala767=)

dbSNP: rs768380939
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000774235 SCV000907936 likely benign Cardiomyopathy 2018-10-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001468408 SCV001672457 likely benign Hypertrophic cardiomyopathy 2024-07-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002442585 SCV002734219 likely benign Cardiovascular phenotype 2018-11-27 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.
All of Us Research Program, National Institutes of Health RCV000774235 SCV004826353 likely benign Cardiomyopathy 2023-12-13 criteria provided, single submitter clinical testing

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