ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.381A>G (p.Thr127=)

dbSNP: rs1804060413
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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 RCV002760731 SCV003013049 likely benign Myoclonic dystonia 11 2024-11-05 criteria provided, single submitter clinical testing

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