ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.2628+3G>A (rs970901)

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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 RCV000039830 SCV000063521 benign not specified 2012-05-07 criteria provided, single submitter clinical testing 2628+3G>A in Intron 35 of COL11A2: This variant is not expected to have clinical significance because it has been identified in 44.8% (1993/4452) of European Am erican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs970901).
PreventionGenetics,PreventionGenetics RCV000039830 SCV000315349 benign not specified criteria provided, single submitter clinical testing
Eurofins NTD, LLC RCV000039830 SCV000342316 benign not specified 2016-05-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354354 SCV000462432 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 RCV000261779 SCV000462433 benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319256 SCV000462434 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 RCV000357659 SCV000462435 benign Otospondylomegaepiphyseal dysplasia, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000039830 SCV000516220 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 RCV001521764 SCV001731166 benign not provided 2020-12-08 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001582521 SCV001821697 benign Deafness, autosomal dominant 13 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001582522 SCV001821699 benign Deafness, autosomal recessive 53 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000354354 SCV001821700 benign Fibrochondrogenesis 2 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000357659 SCV001821701 benign Otospondylomegaepiphyseal dysplasia, autosomal dominant 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000319256 SCV001821702 benign Otospondylomegaepiphyseal dysplasia, autosomal recessive 2021-07-22 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000039830 SCV001739714 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000039830 SCV001808273 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000039830 SCV001956684 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000039830 SCV001964093 benign not specified no assertion criteria provided clinical testing

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