ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.2015C>T (p.Pro672Leu) (rs150877886)

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Total submissions: 10
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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 RCV000271268 SCV000462456 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328619 SCV000462457 likely benign Fibrochondrogenesis 1 2016-06-14 criteria provided, single submitter clinical testing
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 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332013 SCV000462460 likely benign Weissenbacher-Zweymuller syndrome 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.

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