ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1128C>T (p.His376=)

gnomAD frequency: 0.00006  dbSNP: rs771015742
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549662 SCV000631617 likely benign Ehlers-Danlos syndrome, type 4 2023-12-30 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659414 SCV000781227 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771858 SCV000904578 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-06-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227179 SCV002506307 likely benign not provided 2022-02-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004537921 SCV004754361 likely benign COL3A1-related disorder 2024-01-24 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).
All of Us Research Program, National Institutes of Health RCV000549662 SCV004826841 likely benign Ehlers-Danlos syndrome, type 4 2023-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000771858 SCV005032184 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-02-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.

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.