ClinVar Miner

Submissions for variant NM_001282684.2(KCTD17):c.42G>T (p.Ala14=)

gnomAD frequency: 0.00009  dbSNP: rs555901657
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 RCV002087404 SCV002330320 likely benign Myoclonic dystonia 26 2023-02-24 criteria provided, single submitter clinical testing

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