ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8668+19A>G

gnomAD frequency: 0.01001  dbSNP: rs148241865
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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) RCV000080805 SCV000112707 benign not specified 2013-10-22 criteria provided, single submitter clinical testing
GeneDx RCV000080805 SCV000235821 benign not specified 2014-09-15 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 RCV001811378 SCV001159198 benign not provided 2023-09-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001513532 SCV001721164 benign Duchenne muscular dystrophy 2025-02-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000080805 SCV004038110 benign not specified 2023-08-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831876 SCV002087656 benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-04-11 no assertion criteria provided clinical testing

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