ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.3720G>A (p.Pro1240=) (rs139283268)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000218437 SCV000270084 benign not specified 2016-12-13 criteria provided, single submitter clinical testing p.Pro1347Pro in exon 56 of COL11A2: This variant is not expected to have clinica l significance because it does not alter an amino acid residue and is not locate d within the splice consensus sequence It has been identified in 0.8% (64/8454) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs139283268).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000218437 SCV000341013 likely benign not specified 2016-05-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286836 SCV000462296 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339462 SCV000462297 likely benign Otospondylomegaepiphyseal dysplasia, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377686 SCV000462298 likely benign Fibrochondrogenesis 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290278 SCV000462299 likely benign Otospondylomegaepiphyseal dysplasia, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347444 SCV000462300 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000218437 SCV000715918 likely benign not specified 2018-01-17 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.

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.