ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4641C>T (p.Ala1547=)

gnomAD frequency: 0.00002  dbSNP: rs376854724
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001189687 SCV001357034 likely benign Cardiomyopathy 2018-09-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001418803 SCV001621042 likely benign Hypertrophic cardiomyopathy 2024-01-04 criteria provided, single submitter clinical testing
GeneDx RCV001712879 SCV001940604 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339477 SCV002639896 likely benign Cardiovascular phenotype 2021-08-16 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.
Fulgent Genetics, Fulgent Genetics RCV002504204 SCV002806568 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 2021-09-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001189687 SCV004818121 likely benign Cardiomyopathy 2023-03-23 criteria provided, single submitter clinical testing

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