ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.1129A>C (p.Asn377His)

dbSNP: rs763064939
Minimum review status: Collection method:
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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 RCV001207926 SCV001379294 uncertain significance Myoclonic dystonia 11 2021-08-31 criteria provided, single submitter clinical testing

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