ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8706G>A (p.Arg2902=)

gnomAD frequency: 0.00013  dbSNP: rs899851642
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591589 SCV000704727 uncertain significance not provided 2017-01-06 criteria provided, single submitter clinical testing
Invitae RCV001084887 SCV001008865 likely benign Duchenne muscular dystrophy 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV003343932 SCV004050855 likely benign Cardiovascular phenotype 2023-08-30 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 RCV004543352 SCV004772195 likely benign DMD-related disorder 2019-11-21 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).
Natera, Inc. RCV001834887 SCV002080253 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-04-15 no assertion criteria provided clinical testing

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