ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.246T>C (p.Asn82=)

gnomAD frequency: 0.00002  dbSNP: rs1002342370
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003853147 SCV004655327 likely benign Myoclonic dystonia 11 2025-02-07 criteria provided, single submitter clinical testing

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