ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.972C>T (p.Pro324=)

gnomAD frequency: 0.00002  dbSNP: rs1490533382
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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 RCV001424796 SCV001627398 likely benign Myoclonic dystonia 11 2020-12-31 criteria provided, single submitter clinical testing

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