ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.3931C>T (p.Arg1311Ter)

dbSNP: rs2034353033
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002245907 SCV002512824 pathogenic not provided 2022-04-25 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay 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: 34547584, Martinez-Cayuelas2022[article])
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001261255 SCV003843204 pathogenic KBG syndrome 2020-03-30 criteria provided, single submitter clinical testing
Autoinflammatory diseases unit, CHU de Montpellier RCV001261255 SCV001438094 likely pathogenic KBG syndrome 2016-04-29 no assertion criteria provided clinical testing

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.