Submissions for variant NM_080680.3(COL11A2):c.877-4T>A

gnomAD frequency: 0.31476  dbSNP: rs1799907

Total submissions: 19

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039840	SCV000063531	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	877-4T>A in Intron 06 of COL11A2: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence and has been identified in 32.8% (1000/3050) of African American chromosom es from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs. washington.edu/EVS; dbSNP rs1799907).
Eurofins Ntd Llc (ga)	RCV000039840	SCV000232327	benign	not specified	2016-01-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000039840	SCV000315367	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000321401	SCV000462566	benign	Fibrochondrogenesis 2	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV000375972	SCV000462567	benign	Otospondylomegaepiphyseal dysplasia, autosomal dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000280998	SCV000462568	benign	Stickler Syndrome, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000336079	SCV000462569	benign	Otospondylomegaepiphyseal dysplasia, autosomal recessive	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV000039840	SCV000516325	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001511179	SCV001158878	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Invitae	RCV001511179	SCV001718378	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001582533	SCV001821719	benign	Autosomal dominant nonsyndromic hearing loss 13	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001582534	SCV001821721	benign	Autosomal recessive nonsyndromic hearing loss 53	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000321401	SCV001821722	benign	Fibrochondrogenesis 2	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000375972	SCV001821723	benign	Otospondylomegaepiphyseal dysplasia, autosomal dominant	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000336079	SCV001821724	benign	Otospondylomegaepiphyseal dysplasia, autosomal recessive	2021-07-22	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277132	SCV002567093	benign	Connective tissue disorder	2022-06-30	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000039840	SCV001741566	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000039840	SCV001807521	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000039840	SCV001957686	benign	not specified		no assertion criteria provided	clinical testing