ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5280C>T (p.Leu1760=)

gnomAD frequency: 0.00005  dbSNP: rs776420984
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000863681 SCV001004383 benign Duchenne muscular dystrophy 2025-01-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835989 SCV002093515 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-07-03 no assertion criteria provided clinical testing

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