ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.3174G>A (p.Pro1058=) (rs1799910)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039835 SCV000063526 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Pro1058Pro in Exon 43 of COL11A2: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 45.2% (3170/7020) of European American chromosomes from a broad population by the NHLBI Exome Seq uencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1799910)."
PreventionGenetics,PreventionGenetics RCV000039835 SCV000315354 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387271 SCV000462381 benign Otospondylomegaepiphyseal dysplasia, autosomal recessive 2018-01-13 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000292997 SCV000462382 benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352512 SCV000462383 benign Otospondylomegaepiphyseal dysplasia, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000408209 SCV000462384 benign Fibrochondrogenesis 2 2018-01-13 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000039835 SCV000516326 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.
Invitae RCV001521761 SCV001731163 benign not provided 2020-12-08 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001582527 SCV001821675 benign Deafness, autosomal dominant 13 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001582528 SCV001821677 benign Deafness, autosomal recessive 53 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000408209 SCV001821678 benign Fibrochondrogenesis 2 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000352512 SCV001821679 benign Otospondylomegaepiphyseal dysplasia, autosomal dominant 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000387271 SCV001821680 benign Otospondylomegaepiphyseal dysplasia, autosomal recessive 2021-07-22 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000039835 SCV001744399 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000039835 SCV001809290 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000039835 SCV001959593 benign not specified no assertion criteria provided clinical testing

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