ClinVar Miner

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

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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 RCV003754412 SCV004424894 likely benign Myoclonic dystonia 26 2023-06-21 criteria provided, single submitter clinical testing

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