ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.924C>A (p.Val308=)

dbSNP: rs536739408
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Total submissions: 4
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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 RCV000222400 SCV000269378 benign not specified 2015-06-11 criteria provided, single submitter clinical testing p.Val308Val in exon 5 of MYOM1: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (94/16498) of South Asian chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs536739408).
Invitae RCV001516347 SCV001724617 benign Hypertrophic cardiomyopathy 2023-08-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000222400 SCV003857435 likely benign not specified 2022-12-12 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 RCV003937808 SCV004747689 likely benign MYOM1-related condition 2020-01-02 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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