ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1945C>T (p.Arg649Trp)

gnomAD frequency: 0.00002  dbSNP: rs770572107
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000865163 SCV001006090 likely benign Duchenne muscular dystrophy 2024-11-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702736 SCV001931752 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702736 SCV001966360 uncertain significance not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001830882 SCV002092212 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-06-01 no assertion criteria provided clinical testing

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