ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.2593_2608dup (p.Asp870fs)

dbSNP: rs1555877258
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 RCV000676758 SCV000252418 likely pathogenic not provided 2018-03-15 criteria provided, single submitter clinical testing The c.37_48dup12 variant in the TRMU gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant causes an in-frame duplication of four amino acids, denoted p.Gly13_Asp16dup. The c.37_48dup12 variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.37_48dup12 as a likely pathogenic variant.
Eurofins Ntd Llc (ga) RCV000676758 SCV000708048 uncertain significance not provided 2017-04-20 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676758 SCV000802559 uncertain significance not provided 2017-08-08 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.