ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1631+1G>A

dbSNP: rs1057516121
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428513 SCV000516052 pathogenic not provided 2020-05-06 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 20437616, 9425895, 25982755)
GeneReviews RCV000678182 SCV000484628 not provided Seizures, benign familial neonatal, 1 no assertion provided literature only BFNE (benign familial neonatal epilepsy)

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