ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.798+876G>A (rs9277934)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039839 SCV000063530 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Glu276Lys in Exon 06 of COL11A2: This variant is not expected to have clinical s ignificance because it has been identified in 36.5% (1108/3032) of African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs9277934).
PreventionGenetics,PreventionGenetics RCV000039839 SCV000315366 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393056 SCV000462576 benign Weissenbacher-Zweymuller syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306396 SCV000462577 benign Otospondylomegaepiphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361205 SCV000462578 benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266541 SCV000462579 benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321415 SCV000462580 benign Fibrochondrogenesis 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000039839 SCV000516324 benign not specified 2016-09-29 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039839 SCV000704640 benign not specified 2016-12-15 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.