ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7301C>T (p.Thr2434Ile)

gnomAD frequency: 0.00001  dbSNP: rs1811763988
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001306142 SCV001495501 uncertain significance Cohen syndrome 2021-09-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001306142 SCV002082646 uncertain significance Cohen syndrome 2021-07-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004743392 SCV005341576 uncertain significance VPS13B-related disorder 2024-02-26 no assertion criteria provided clinical testing The VPS13B c.7301C>T variant is predicted to result in the amino acid substitution p.Thr2434Ile. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.