ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5677T>C (p.Leu1893=)

gnomAD frequency: 0.00003  dbSNP: rs186237022
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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 RCV001435552 SCV001638377 likely benign Duchenne muscular dystrophy 2023-12-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826249 SCV002093475 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-05-07 no assertion criteria provided clinical testing

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