ClinVar Miner

Submissions for variant NM_021614.4(KCNN2):c.1931T>C (p.Leu644Pro)

dbSNP: rs1747594790
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics, University Hospital Essen RCV001201176 SCV001371856 pathogenic Cerebellar ataxia; Global developmental delay; Dyskinesia; Intellectual disability, mild 2020-07-01 criteria provided, single submitter research
OMIM RCV001822867 SCV002072458 pathogenic Neurodevelopmental disorder with or without variable movement or behavioral abnormalities 2022-01-28 no assertion criteria provided literature only

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