ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.744C>A (p.Ile248=)

dbSNP: rs2147604978
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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 RCV001432798 SCV001635577 likely benign Duchenne muscular dystrophy 2021-01-01 criteria provided, single submitter clinical testing

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