ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.135C>T (p.His45=)

gnomAD frequency: 0.00001  dbSNP: rs1394843820
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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 RCV001440380 SCV001643288 likely benign Myoclonic dystonia 11 2022-02-28 criteria provided, single submitter clinical testing

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