ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.875C>T (p.Ala292Val) (rs1211991688)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768191 SCV000898633 uncertain significance Ehlers-Danlos syndrome, classic type 2018-07-05 criteria provided, single submitter clinical testing COL5A2 NM_000393.4 exon 13 p.Ala292Val (c.875C>T): This variant has not been reported in the literature but is present in 1/111668 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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.