ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3276+17A>T

gnomAD frequency: 0.00329  dbSNP: rs184220727
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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) RCV000080571 SCV000112473 benign not specified 2016-04-04 criteria provided, single submitter clinical testing
GeneDx RCV000080571 SCV000235835 benign not specified 2014-09-04 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002055175 SCV002401134 benign Duchenne muscular dystrophy 2025-02-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000080571 SCV004029850 benign not specified 2023-07-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826744 SCV002085469 benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-04-10 no assertion criteria provided clinical testing

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