ClinVar Miner

Submissions for variant NM_001282684.2(KCTD17):c.486+20G>A

gnomAD frequency: 0.00002  dbSNP: rs372989339
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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 RCV002192327 SCV002347944 likely benign Myoclonic dystonia 26 2023-01-31 criteria provided, single submitter clinical testing

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