ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2472C>T (p.Val824=)

gnomAD frequency: 0.00001  dbSNP: rs397516150
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035796 SCV000059447 likely benign not specified 2008-03-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000724206 SCV000227754 uncertain significance not provided 2014-12-10 criteria provided, single submitter clinical testing
Invitae RCV001078860 SCV000750010 likely benign Hypertrophic cardiomyopathy 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453296 SCV002737463 likely benign Cardiovascular phenotype 2022-06-19 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.
PreventionGenetics, part of Exact Sciences RCV003894854 SCV004715483 likely benign MYH7-related condition 2022-04-04 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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