ClinVar Miner

Submissions for variant NM_001282684.2(KCTD17):c.849C>T (p.Leu283=)

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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 RCV003002786 SCV003298668 likely benign Myoclonic dystonia 26 2022-08-11 criteria provided, single submitter clinical testing

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