ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.2592G>A (p.Thr864=)

gnomAD frequency: 0.00001  dbSNP: rs752148935
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002064468 SCV002360894 likely benign Hypertrophic cardiomyopathy 14 2023-03-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002434074 SCV002745419 likely benign Cardiovascular phenotype 2020-01-17 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.
Breakthrough Genomics, Breakthrough Genomics RCV004705806 SCV005211378 likely benign not provided criteria provided, single submitter not provided

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