ClinVar Miner

Submissions for variant NM_001190274.2(FBXO11):c.2699C>G (p.Thr900Arg)

gnomAD frequency: 0.00001  dbSNP: rs780870758
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002069340 SCV002401348 benign not provided 2022-09-30 criteria provided, single submitter clinical testing
Mendelics RCV002246238 SCV002518285 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002570514 SCV003568272 uncertain significance Inborn genetic diseases 2021-08-02 criteria provided, single submitter clinical testing The c.2699C>G (p.T900R) alteration is located in exon 23 (coding exon 23) of the FBXO11 gene. This alteration results from a C to G substitution at nucleotide position 2699, causing the threonine (T) at amino acid position 900 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252493 SCV001428250 likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 2019-01-01 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.