ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.864G>A (p.Val288=)

gnomAD frequency: 0.00001  dbSNP: rs772144979
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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 RCV002111024 SCV002387496 likely benign Myoclonic dystonia 11 2023-10-03 criteria provided, single submitter clinical testing

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