Submissions for variant NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu)

gnomAD frequency: 0.00284  dbSNP: rs55821405

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000179220	SCV000231431	likely benign	not specified	2014-10-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000385330	SCV000346375	likely benign	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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV000318353	SCV000346377	likely benign	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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV000963059	SCV000516874	benign	not provided	2018-07-25	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 15922184, 27353947, 24036952)
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659326	SCV000781137	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
Invitae	RCV000963059	SCV001110187	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000963059	SCV001147356	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	COL11A1: PP3, BS2
PreventionGenetics, part of Exact Sciences	RCV004539681	SCV004794072	benign	COL11A1-related disorder	2021-02-01	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).