ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.833C>T (p.Pro278Leu)

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 RCV002638122 SCV003521582 benign not provided 2023-10-09 criteria provided, single submitter clinical testing
GeneDx RCV002638122 SCV005396083 uncertain significance not provided 2024-05-08 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004750305 SCV005357331 uncertain significance COL11A2-related disorder 2024-06-03 no assertion criteria provided clinical testing The COL11A2 c.833C>T variant is predicted to result in the amino acid substitution p.Pro278Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.046% of alleles in individuals of Latino descent in gnomAD. 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.