ClinVar Miner

Submissions for variant NM_021614.4(KCNN2):c.1116C>A (p.Tyr372Ter)

dbSNP: rs774833524
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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 RCV001201168 SCV001371848 pathogenic Global developmental delay; Autistic behavior; Intellectual disability, severe; Motor tics 2020-07-01 criteria provided, single submitter research
OMIM RCV001822865 SCV002072457 pathogenic Neurodevelopmental disorder with or without variable movement or behavioral abnormalities 2022-01-31 no assertion criteria provided literature only

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