Submissions for variant NM_080680.3(COL11A2):c.3384C>T (p.Pro1128=)

gnomAD frequency: 0.22509  dbSNP: rs1799911

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000220826	SCV000268902	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	"Pro1128Pro in Exon 46 of COL11A2: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 28.1% (1259/4488) of European American chromosomes from a broad population by the NHLBI Exome Seq uencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1799911)."
PreventionGenetics, part of Exact Sciences	RCV000220826	SCV000315356	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000322230	SCV000462357	benign	Otospondylomegaepiphyseal dysplasia, autosomal dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000376785	SCV000462358	benign	Stickler Syndrome, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000287064	SCV000462359	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	RCV000342166	SCV000462360	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	RCV000220826	SCV000516327	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	RCV001521759	SCV001731161	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001582723	SCV001821664	benign	Autosomal dominant nonsyndromic hearing loss 13	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001582724	SCV001821666	benign	Autosomal recessive nonsyndromic hearing loss 53	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000287064	SCV001821667	benign	Fibrochondrogenesis 2	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000322230	SCV001821668	benign	Otospondylomegaepiphyseal dysplasia, autosomal dominant	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000342166	SCV001821669	benign	Otospondylomegaepiphyseal dysplasia, autosomal recessive	2021-07-22	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000220826	SCV001744537	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000220826	SCV001809073	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000220826	SCV001951587	benign	not specified		no assertion criteria provided	clinical testing