ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.288T>C (p.Cys96=)

gnomAD frequency: 0.00016  dbSNP: rs577308799
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
Ambry Genetics RCV002314285 SCV000738728 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-01-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV002233029 SCV000755983 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-01-05 criteria provided, single submitter clinical testing
GeneDx RCV002285375 SCV002576184 likely benign not provided 2018-10-09 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences RCV003917983 SCV004728499 likely benign COL5A2-related condition 2019-05-23 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.