ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.1253+14T>C

dbSNP: rs2484921330
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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 RCV003616324 SCV004409640 likely benign Myoclonic dystonia 11 2022-11-17 criteria provided, single submitter clinical testing

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