ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8175A>G (p.Leu2725=)

gnomAD frequency: 0.00001  dbSNP: rs1569139704
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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 RCV000867177 SCV001008374 likely benign Duchenne muscular dystrophy 2021-10-08 criteria provided, single submitter clinical testing

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