ClinVar Miner

Submissions for variant NM_033310.3(KCNK4):c.730G>C (p.Ala244Pro)

dbSNP: rs1189909394
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital RCV000681606 SCV000804241 pathogenic Seizure; Abnormal facial shape; Gingival overgrowth; Intellectual disability; Generalized hypertrichosis 2018-07-01 criteria provided, single submitter research this is a pathogenic variant associated with a novel neurodevelopmental disorder
OMIM RCV000767375 SCV000897946 pathogenic Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 2019-05-30 no assertion criteria provided literature only

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