ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.297-2A>G

dbSNP: rs796052615
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187849 SCV000241449 pathogenic not provided 2025-01-28 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28717674, 23360469, 29655203, 20437616)
GeneReviews RCV000678114 SCV000484549 not provided Seizures, benign familial neonatal, 1 no assertion provided literature only BFNIS (benign familial neonatal-infantile seizures)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.