Submissions for variant NM_080680.3(COL11A2):c.2700T>C (p.Asp900=)

gnomAD frequency: 0.78559  dbSNP: rs2229785

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039832	SCV000063523	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	"Asp900Asp in Exon 37 of COL11A2: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 26.8% (1205/4488) of European American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2229785)."
PreventionGenetics, part of Exact Sciences	RCV000039832	SCV000315352	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000039832	SCV000338350	benign	not specified	2015-12-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000261448	SCV000462416	benign	Otospondylomegaepiphyseal dysplasia, autosomal dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000318977	SCV000462417	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	RCV000283893	SCV000462419	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	RCV000322266	SCV000462420	benign	Stickler Syndrome, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000039832	SCV000516221	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	RCV001521763	SCV001731165	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001582523	SCV001821686	benign	Autosomal dominant nonsyndromic hearing loss 13	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001582524	SCV001821688	benign	Autosomal recessive nonsyndromic hearing loss 53	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000318977	SCV001821689	benign	Fibrochondrogenesis 2	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000261448	SCV001821690	benign	Otospondylomegaepiphyseal dysplasia, autosomal dominant	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000283893	SCV001821691	benign	Otospondylomegaepiphyseal dysplasia, autosomal recessive	2021-07-22	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000039832	SCV001740001	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000039832	SCV001808666	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000039832	SCV001957006	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000039832	SCV001973895	benign	not specified		no assertion criteria provided	clinical testing