ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5159T>C (p.Leu1720Ser)

gnomAD frequency: 0.00001  dbSNP: rs772640289
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001240809 SCV001413784 likely benign Duchenne muscular dystrophy 2023-09-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828960 SCV002093533 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-09-16 no assertion criteria provided clinical testing

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