ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2163G>A (p.Arg721=)

gnomAD frequency: 0.00001  dbSNP: rs2048850262
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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 RCV002538673 SCV002982707 likely benign Duchenne muscular dystrophy 2024-04-09 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723451 SCV001959499 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001723451 SCV001975276 likely benign not provided no assertion criteria provided clinical testing

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