ClinVar Miner

Submissions for variant NM_001190274.2(FBXO11):c.2738_2739del (p.Leu912_Tyr913insTer)

dbSNP: rs1553334863
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
Institute of Human Genetics, University of Leipzig Medical Center RCV000677381 SCV001428703 pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 2021-12-21 criteria provided, single submitter research
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268253 SCV001447048 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
OMIM RCV000677381 SCV000803644 pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 2018-08-17 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001291439 SCV001479941 likely pathogenic Neurodevelopmental disorder no assertion criteria provided 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.