ClinVar Miner

Submissions for variant NM_000089.3(COL1A2):c.1383C>T (p.Pro461=) (rs139726213)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000611702 SCV000717238 likely benign not specified 2018-01-08 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.
Integrated Genetics/Laboratory Corporation of America RCV000029592 SCV000052244 likely benign Osteogenesis imperfecta 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
Invitae RCV000541643 SCV000627292 benign Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 2017-06-21 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.