ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.3313-11C>T (rs2855437)

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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039836 SCV000063527 benign not specified 2012-05-07 criteria provided, single submitter clinical testing 3313-11C>T in Intron 44 of COL11A2: This variant is not expected to have clinica l significance because it has been identified in 31.5% (2213/7016) of European A merican chromosomes from a broad population by the NHLBI Exome Sequencing Projec t (http://evs.gs.washington.edu/EVS; dbSNP rs2855437).
PreventionGenetics,PreventionGenetics RCV000039836 SCV000315355 benign not specified criteria provided, single submitter clinical testing
Eurofins NTD, LLC RCV000039836 SCV000340659 benign not specified 2016-03-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356117 SCV000462372 benign Otospondylomegaepiphyseal dysplasia, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266076 SCV000462373 benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321210 SCV000462374 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.
Illumina Clinical Services Laboratory,Illumina RCV000380511 SCV000462375 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.
GeneDx RCV000039836 SCV000516223 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 RCV001521760 SCV001731162 benign not provided 2020-12-08 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001582529 SCV001821670 benign Deafness, autosomal dominant 13 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001582530 SCV001821671 benign Deafness, autosomal recessive 53 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000321210 SCV001821672 benign Fibrochondrogenesis 2 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000356117 SCV001821673 benign Otospondylomegaepiphyseal dysplasia, autosomal dominant 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000380511 SCV001821674 benign Otospondylomegaepiphyseal dysplasia, autosomal recessive 2021-07-22 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000039836 SCV001743996 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000039836 SCV001807149 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000039836 SCV001959994 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000039836 SCV001976185 benign not specified no assertion criteria provided clinical testing

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