ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.823T>C (p.Leu275=)

gnomAD frequency: 0.00004  dbSNP: rs780163710
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 RCV001458150 SCV001661965 likely benign Myoclonic dystonia 11 2023-06-04 criteria provided, single submitter clinical testing

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