ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.6854C>T (p.Pro2285Leu)

gnomAD frequency: 0.00005  dbSNP: rs1438782223
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001237587 SCV001410353 likely benign Duchenne muscular dystrophy 2024-09-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828891 SCV002087815 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-02-25 no assertion criteria provided clinical testing

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