ClinVar Miner

Submissions for variant NM_021614.4(KCNN2):c.1436_1439del (p.Leu478_Tyr479insTer)

dbSNP: rs1758879579
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics, University Hospital Essen RCV001201167 SCV001371847 pathogenic Cerebellar ataxia; Global developmental delay; Intellectual disability, mild 2020-07-01 criteria provided, single submitter research

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