ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8945G>A (p.Arg2982Gln)

gnomAD frequency: 0.00001  dbSNP: rs750579766
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594174 SCV000708244 benign not specified 2017-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000871340 SCV001012977 benign Duchenne muscular dystrophy 2024-12-31 criteria provided, single submitter clinical testing
GeneDx RCV001534368 SCV001751292 benign not provided 2020-06-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002448837 SCV002682069 benign Cardiovascular phenotype 2020-06-24 criteria provided, single submitter clinical testing This alteration is classified as 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.
Fulgent Genetics, Fulgent Genetics RCV002498864 SCV002811910 benign Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2021-08-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829678 SCV002080215 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2021-07-06 no assertion criteria provided clinical testing

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