ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.36C>T (p.Ala12=)

gnomAD frequency: 0.00001  dbSNP: rs766884630
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000629035 SCV000749945 likely benign Hypertrophic cardiomyopathy 2024-01-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001179129 SCV001343736 likely benign Cardiomyopathy 2020-04-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343191 SCV002621572 likely benign Cardiovascular phenotype 2019-03-02 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001179129 SCV004239457 likely benign Cardiomyopathy 2022-07-06 criteria provided, single submitter clinical testing

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