ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3419A>G (p.His1140Arg)

gnomAD frequency: 0.00003  dbSNP: rs201297190
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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) RCV000723384 SCV000112479 uncertain significance not provided 2015-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081258 SCV000560819 benign Duchenne muscular dystrophy 2024-11-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000723384 SCV000603376 benign not provided 2021-11-11 criteria provided, single submitter clinical testing
GeneDx RCV000723384 SCV001908447 benign not provided 2020-02-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453402 SCV002614315 benign Cardiovascular phenotype 2022-08-11 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.
Natera, Inc. RCV001831843 SCV002085448 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-06-21 no assertion criteria provided clinical testing

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