ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.693G>A (p.Pro231=)

gnomAD frequency: 0.00002  dbSNP: rs757206832
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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 RCV000931898 SCV001077574 likely benign Myoclonic dystonia 11 2024-01-15 criteria provided, single submitter clinical testing

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