ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2824A>G (p.Met942Val)

gnomAD frequency: 0.00042  dbSNP: rs371648742
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726566 SCV000235833 benign not provided 2020-03-26 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726566 SCV000345579 uncertain significance not provided 2016-09-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084984 SCV000625880 benign Duchenne muscular dystrophy 2025-01-29 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000183385 SCV001433373 likely benign not specified 2019-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433814 SCV002747704 likely benign Cardiovascular phenotype 2018-10-28 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.
Natera, Inc. RCV001826925 SCV002089668 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-06-24 no assertion criteria provided clinical testing

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