ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5400C>G (p.Ala1800=)

dbSNP: rs556490774
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001182400 SCV001347835 likely benign Cardiomyopathy 2019-05-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002346202 SCV002651466 likely benign Cardiovascular phenotype 2022-10-13 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 RCV003748300 SCV004520485 likely benign Hypertrophic cardiomyopathy 2023-08-01 criteria provided, single submitter clinical testing

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