ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.234C>T (p.Gly78=)

gnomAD frequency: 0.00004  dbSNP: rs768766085
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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 RCV001228626 SCV001401034 likely benign Myoclonic dystonia 11 2024-01-07 criteria provided, single submitter clinical testing

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