Submissions for variant NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln)

gnomAD frequency: 0.00098  dbSNP: rs144884147

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724098	SCV000232619	uncertain significance	not provided	2018-06-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000401943	SCV000346550	uncertain significance	Stickler syndrome type 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina	RCV000302249	SCV000346551	uncertain significance	Fibrochondrogenesis 1	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV000724098	SCV000570368	likely benign	not provided	2021-01-13	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 15922184, 24036952)
CeGaT Center for Human Genetics Tuebingen	RCV000724098	SCV001147360	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	COL11A1: BS1
Invitae	RCV000724098	SCV001557194	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000724098	SCV003831152	uncertain significance	not provided	2023-02-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004539694	SCV004766681	likely benign	COL11A1-related disorder	2022-11-12	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000724098	SCV001798613	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000724098	SCV001809455	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000180223	SCV001951054	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000724098	SCV001964799	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000724098	SCV002034624	likely benign	not provided		no assertion criteria provided	clinical testing