ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5370A>C (p.Ile1790=)

gnomAD frequency: 0.00001  dbSNP: rs748336386
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001463462 SCV001667406 likely benign Duchenne muscular dystrophy 2025-01-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828489 SCV002093508 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-12-08 no assertion criteria provided clinical testing

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