ClinVar Miner

Submissions for variant NM_021614.4(KCNN2):c.1384dup (p.Thr462fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Heidelberg University RCV004006243 SCV004814180 pathogenic Neurodevelopmental disorder with or without variable movement or behavioral abnormalities; Dystonia 34, myoclonic 2023-10-04 criteria provided, single submitter clinical testing

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