ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5178G>A (p.Gln1726=)

gnomAD frequency: 0.00001  dbSNP: rs747252861
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769436 SCV000900829 uncertain significance Cardiomyopathy 2016-01-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000769436 SCV001350050 likely benign Cardiomyopathy 2020-01-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001482034 SCV001686394 likely benign Hypertrophic cardiomyopathy 2024-08-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004985113 SCV005453866 likely benign Cardiovascular phenotype 2024-11-18 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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