ClinVar Miner

Submissions for variant NM_001282684.2(KCTD17):c.522C>T (p.Ser174=)

gnomAD frequency: 0.00001  dbSNP: rs577803443
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001322708 SCV001513594 likely benign Myoclonic dystonia 26 2022-07-19 criteria provided, single submitter clinical testing

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