ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2173G>T (p.Asp725Tyr)

dbSNP: rs398123879
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080485 SCV000112387 benign not specified 2015-09-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000861612 SCV001001980 benign Duchenne muscular dystrophy 2024-08-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831835 SCV002092176 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-04-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004542774 SCV004793076 likely benign DMD-related disorder 2020-03-03 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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