ClinVar Miner

Submissions for variant NM_001190274.2(FBXO11):c.2685_2686del (p.Leu895_Ser896insTer)

dbSNP: rs1572753822
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
Undiagnosed Diseases Network, NIH RCV000991219 SCV001142599 pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 2019-05-21 criteria provided, single submitter clinical testing
GeneDx RCV001779098 SCV002015766 pathogenic not provided 2021-11-09 criteria provided, single submitter clinical testing Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 32 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 30679813)
Institute of Human Genetics, University of Leipzig Medical Center RCV000991219 SCV002044469 pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 2021-12-21 criteria provided, single submitter research

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.