ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.31+36946C>T

gnomAD frequency: 0.00211  dbSNP: rs186833917
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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) RCV000080544 SCV000112446 benign not specified 2013-09-25 criteria provided, single submitter clinical testing
GeneDx RCV000080544 SCV000168140 benign not specified 2014-05-02 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 RCV003656101 SCV001159684 benign not provided 2023-11-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004537356 SCV004718087 likely benign DMD-related disorder 2020-03-02 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. RCV001826741 SCV002093607 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2017-08-10 no assertion criteria provided clinical testing

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