ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.1977C>G (p.Tyr659Ter)

dbSNP: rs749201074
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579343 SCV000681325 pathogenic not provided 2023-09-14 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: 34971082, 32124548)
Fulgent Genetics, Fulgent Genetics RCV000763390 SCV000894095 pathogenic KBG syndrome 2018-10-31 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV000763390 SCV002059389 pathogenic KBG syndrome 2020-05-22 criteria provided, single submitter clinical testing
Genome Medicine, Institute for Basic Research in Developmental Disabilities RCV000763390 SCV002562758 likely pathogenic KBG syndrome criteria provided, single submitter clinical testing KBG syndrome

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.