Submissions for variant NM_080680.3(COL11A2):c.1360-7A>C

gnomAD frequency: 0.99999  dbSNP: rs3129201

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039825	SCV000063516	benign	not specified	2012-11-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000039825	SCV000315340	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000306448	SCV000462531	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 Laboratory Services, Illumina	RCV000342438	SCV000462532	benign	Otospondylomegaepiphyseal dysplasia, autosomal dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000390997	SCV000462533	benign	Stickler Syndrome, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000357632	SCV000462535	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	RCV000039825	SCV000516218	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.
Eurofins Ntd Llc (ga)	RCV000039825	SCV000862110	benign	not specified	2018-06-26	criteria provided, single submitter	clinical testing
Invitae	RCV001521765	SCV001731167	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001582517	SCV001821714	benign	Autosomal dominant nonsyndromic hearing loss 13	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001582518	SCV001821715	benign	Autosomal recessive nonsyndromic hearing loss 53	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000357632	SCV001821716	benign	Fibrochondrogenesis 2	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000342438	SCV001821717	benign	Otospondylomegaepiphyseal dysplasia, autosomal dominant	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000306448	SCV001821718	benign	Otospondylomegaepiphyseal dysplasia, autosomal recessive	2021-07-22	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000039825	SCV001743382	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000039825	SCV001808767	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000039825	SCV001954703	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000039825	SCV001964228	benign	not specified		no assertion criteria provided	clinical testing