ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5533C>A (p.Arg1845=)

dbSNP: rs28933098
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001428208 SCV001630903 likely benign Hypertrophic cardiomyopathy 2023-03-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495589 SCV002795348 likely benign Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 2021-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004641644 SCV005143093 likely benign Cardiovascular phenotype 2024-06-06 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.

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