ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.613A>G (p.Ile205Val)

dbSNP: rs1057516087
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002248637 SCV002516603 pathogenic Seizures, benign familial neonatal, 1 2022-05-04 criteria provided, single submitter clinical testing
GeneReviews RCV000678131 SCV000484568 not provided Developmental and epileptic encephalopathy, 7 no assertion provided literature only EE (epileptic encephalopathy)

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