ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.2336C>T (p.Pro779Leu) (rs150877886)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000177478 SCV000229340 likely benign not specified 2015-05-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000177478 SCV000268899 benign not specified 2015-07-20 criteria provided, single submitter clinical testing p.Pro779Leu in exon 30 of COL11A2: This variant is not expected to have clinical significance because it has been identified in 0.76% (87/11452) Latino chromoso mes, in 0.69% (112/16264) South Asian chromosomes, and in 0.23% (143/63200) Eur opean Chromosomes by the Exome Aggregation Consortium Sequencing Project (ExAC, http://exac.broadinstitute.org; dbSNP rs150877886).
PreventionGenetics,PreventionGenetics RCV000177478 SCV000315345 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328619 SCV000462457 likely benign Fibrochondrogenesis 2 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000385490 SCV000462458 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274678 SCV000462459 likely benign Otospondylomegaepiphyseal dysplasia, autosomal recessive 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000332013 SCV000462460 likely benign Otospondylomegaepiphyseal dysplasia, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000437212 SCV000511069 likely benign not provided 2016-11-15 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000177478 SCV000730656 benign not specified 2017-03-03 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.
Mendelics RCV000274678 SCV001137090 likely benign Otospondylomegaepiphyseal dysplasia, autosomal recessive 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000437212 SCV001154716 likely benign not provided 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV000437212 SCV001732464 benign not provided 2020-11-27 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.