ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.3261+31T>C

gnomAD frequency: 0.66062  dbSNP: rs2586488
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 RCV000834134 SCV000975902 benign not provided 2018-06-14 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.
Genome-Nilou Lab RCV001593046 SCV001821819 benign Ehlers-Danlos syndrome, arthrochalasia type 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001593045 SCV001821821 benign Osteogenesis imperfecta type I 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001593044 SCV001821822 benign Osteogenesis imperfecta, perinatal lethal 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001593042 SCV001821823 benign Osteogenesis imperfecta type III 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001593043 SCV001821824 benign Osteogenesis imperfecta with normal sclerae, dominant form 2021-07-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000834134 SCV005249951 benign not provided criteria provided, single submitter not provided

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.