ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2184G>A (p.Ala728=)

gnomAD frequency: 0.00010  dbSNP: rs148650290
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126984 SCV000170515 benign not specified 2011-07-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000629051 SCV000749963 likely benign Hypertrophic cardiomyopathy 2023-12-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001181349 SCV001346475 likely benign Cardiomyopathy 2018-12-04 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001181349 SCV002042265 likely benign Cardiomyopathy 2020-03-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426687 SCV002730139 likely benign Cardiovascular phenotype 2019-10-03 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 RCV001181349 SCV004821622 likely benign Cardiomyopathy 2024-02-05 criteria provided, single submitter clinical testing

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