ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.1803C>T (p.Pro601=)

gnomAD frequency: 0.00153  dbSNP: rs371861150
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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 RCV000213622 SCV000269344 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Pro601Pro in exon 12 of MYOM1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.4% (17/3778) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS).
Labcorp Genetics (formerly Invitae), Labcorp RCV000465199 SCV000561227 benign Hypertrophic cardiomyopathy 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000213622 SCV002713176 likely benign not specified 2022-02-12 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 RCV004530271 SCV004731436 likely benign MYOM1-related disorder 2019-03-12 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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