ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.220C>T (p.Leu74=)

gnomAD frequency: 0.00001  dbSNP: rs779111278
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001441104 SCV001644023 likely benign Duchenne muscular dystrophy 2024-06-12 criteria provided, single submitter clinical testing

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