ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.456C>G (p.Pro152=)

gnomAD frequency: 0.00006  dbSNP: rs554968385
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000828006 SCV000969680 likely benign not provided 2019-06-13 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001181788 SCV001347014 likely benign Cardiomyopathy 2018-11-30 criteria provided, single submitter clinical testing
Invitae RCV001464380 SCV001668347 likely benign Hypertrophic cardiomyopathy 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336733 SCV002636048 likely benign Cardiovascular phenotype 2019-07-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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