ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5386C>T (p.Pro1796Ser)

gnomAD frequency: 0.00002  dbSNP: rs758124706
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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 RCV002086211 SCV002424505 likely benign Duchenne muscular dystrophy 2023-10-28 criteria provided, single submitter clinical testing

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