ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.31+36949C>T

gnomAD frequency: 0.01020  dbSNP: rs182597890
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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) RCV000723492 SCV000112447 uncertain significance not provided 2014-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000225710 SCV000168141 benign not specified 2014-01-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000723492 SCV001159590 benign not provided 2022-04-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004537357 SCV004730710 benign DMD-related disorder 2019-05-10 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001826742 SCV002093605 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2017-03-28 no assertion criteria provided clinical testing

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