ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1016T>G (p.Leu339Arg)

dbSNP: rs118192217
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000678052 SCV000041606 not provided Seizures, benign familial neonatal, 1 no assertion provided literature only BFNE (benign familial neonatal epilepsy)
Diagnostic Laboratory, Strasbourg University Hospital RCV002274886 SCV002562817 pathogenic Seizure no assertion criteria provided clinical testing

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