ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.704C>T (p.Ala235Val) (rs797045638)

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
Genetic Services Laboratory, University of Chicago RCV000194723 SCV000247666 likely pathogenic Early infantile epileptic encephalopathy 7 2017-02-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720896 SCV000851780 likely pathogenic Seizures 2018-08-16 criteria provided, single submitter clinical testing Confirmed de novo alteration in the setting of a new disease (appropriate phenotype) in the family;Rarity in general population databases (dbsnp, esp, 1000 genomes);In silico models in agreement (deleterious) and/or completely conserved position in appropriate species

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.