ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.832-18C>G

gnomAD frequency: 0.01505  dbSNP: rs72470515
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080793 SCV000112695 benign not specified 2014-05-09 criteria provided, single submitter clinical testing
GeneDx RCV000080793 SCV000168162 benign not specified 2014-03-06 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 RCV001528587 SCV001473104 benign not provided 2023-11-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000080793 SCV005204786 benign not specified 2024-06-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001528587 SCV005276055 benign not provided criteria provided, single submitter not provided
Labcorp Genetics (formerly Invitae), Labcorp RCV005055568 SCV005716156 benign Duchenne muscular dystrophy 2024-08-19 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528587 SCV001740548 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000080793 SCV001799574 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000080793 SCV001924323 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000080793 SCV001931629 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV001831873 SCV002090463 benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-04-24 no assertion criteria provided clinical testing

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