ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.832-17C>A

gnomAD frequency: 0.01678  dbSNP: rs72470514
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080792 SCV000112694 benign not specified 2014-05-09 criteria provided, single submitter clinical testing
GeneDx RCV000080792 SCV000168163 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 RCV001528619 SCV001473103 benign not provided 2023-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055180 SCV002337217 benign Duchenne muscular dystrophy 2023-04-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490702 SCV002799971 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2022-02-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001528619 SCV005276054 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528619 SCV001740626 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000080792 SCV001798501 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000080792 SCV001921514 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000080792 SCV001927116 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV001826762 SCV002090462 benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-04-24 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.