ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2823+1G>A

dbSNP: rs587779424
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002284361 SCV002574591 likely pathogenic not provided 2022-02-23 criteria provided, single submitter clinical testing This variant is demonstrated to affect the canonical splice donor site and result in a null allele in a gene for which loss-of-function is a known mechanism of disease (Leistritz et al., 2011); Identified in an individual with either a personal or family history of a major arterial event, but specific clinical information was not provided (Leistritz et al., 2011); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 24922459, 21637106)
Collagen Diagnostic Laboratory, University of Washington RCV000087347 SCV000120227 pathogenic Ehlers-Danlos syndrome, type 4 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.