ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser)

gnomAD frequency: 0.00133  dbSNP: rs139189200
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
GeneDx RCV000200581 SCV000249964 benign not provided 2019-12-09 criteria provided, single submitter clinical testing
Invitae RCV001086037 SCV000558999 benign Ehlers-Danlos syndrome, classic type, 1 2023-12-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277313 SCV002565815 benign Ehlers-Danlos syndrome 2020-11-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498775 SCV002796185 likely benign Ehlers-Danlos syndrome, classic type, 2 2021-11-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003488405 SCV004240992 likely benign not specified 2023-12-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002498775 SCV004565202 likely benign Ehlers-Danlos syndrome, classic type, 2 2023-10-13 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157150 SCV000206873 likely benign Familial thoracic aortic aneurysm and aortic dissection 2014-09-17 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.