ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.546G>A (p.Ala182=)

dbSNP: rs150015506
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000526897 SCV001477676 likely benign not provided 2020-01-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001404571 SCV001606474 likely benign Hypertrophic cardiomyopathy 14 2024-04-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350320 SCV002649827 likely benign Cardiovascular phenotype 2018-01-25 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.
PreventionGenetics, part of Exact Sciences RCV004543183 SCV004758249 likely benign MYH6-related disorder 2020-09-18 no assertion criteria provided 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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