ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.1483-7C>G (rs112463388)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080455 SCV000112357 benign not specified 2012-12-20 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224743 SCV000281308 benign not provided 2016-01-11 criteria provided, single submitter clinical testing
Invitae RCV001082263 SCV000288041 benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000080455 SCV000517402 benign not specified 2016-06-27 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 RCV000080455 SCV000603361 benign not specified 2017-04-25 criteria provided, single submitter clinical testing

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