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

gnomAD frequency: 0.73560  dbSNP: rs2855437

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham 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, part of Exact Sciences	RCV000039836	SCV000315355	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000039836	SCV000340659	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000356117	SCV000462372	benign	Otospondylomegaepiphyseal dysplasia, autosomal dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000266076	SCV000462373	benign	Stickler Syndrome, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, 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 Laboratory Services, 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001521760	SCV001731162	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001582529	SCV001821670	benign	Autosomal dominant nonsyndromic hearing loss 13	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001582530	SCV001821671	benign	Autosomal recessive nonsyndromic hearing loss 53	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000321210	SCV001821672	benign	Fibrochondrogenesis 2	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000356117	SCV001821673	benign	Otospondylomegaepiphyseal dysplasia, autosomal dominant	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou 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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	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