ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.3231A>G (p.Glu1077=)

gnomAD frequency: 0.00006  dbSNP: rs376248130
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
Illumina Laboratory Services, Illumina RCV000302593 SCV000478555 uncertain significance Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000434210 SCV000512707 benign not specified 2016-04-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002314092 SCV000738620 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-24 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.
CeGaT Center for Human Genetics Tuebingen RCV000634690 SCV001500578 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002230206 SCV001700825 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-01-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278629 SCV002565714 uncertain significance Ehlers-Danlos syndrome 2020-06-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000434210 SCV004039225 benign not specified 2023-08-24 criteria provided, single submitter 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.