ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.4679G>A (p.Arg1560His) (rs146555195)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155065 SCV000204749 likely benign not specified 2015-01-23 criteria provided, single submitter clinical testing p.Arg1667His in exon 65 of COL11A2: This variant is not expected to have clinica l significance because it has been identified in 0.18% (111/62708) of European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs146555195). In addition, it has been seen by our laboratory in two individuals with hearing loss, neither of whom carried a clinically significant COL11A2 variant on the other allele and both of whom had an alternate genetic e xplanation for their hearing loss.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000155065 SCV000231938 likely benign not specified 2015-03-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365910 SCV000462206 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271332 SCV000462207 likely benign Fibrochondrogenesis 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000326882 SCV000462208 likely benign Otospondylomegaepiphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000381519 SCV000462209 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277747 SCV000462210 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 RCV000427587 SCV000511692 likely benign not provided 2017-01-24 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000155065 SCV000714263 benign not specified 2017-11-03 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000427587 SCV000780852 likely benign not provided 2018-02-28 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000680464 SCV000807839 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing

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