ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2168+11C>G

dbSNP: rs376214348
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003512117 SCV004281438 likely benign Duchenne muscular dystrophy 2024-01-13 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001530043 SCV001744576 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001530043 SCV001928185 likely benign not provided no assertion criteria provided clinical testing

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