Submissions for variant NM_000089.4(COL1A2):c.936+14C>T

gnomAD frequency: 0.81710  dbSNP: rs42518

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248234	SCV000302011	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000314562	SCV000470569	benign	Osteogenesis imperfecta	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	RCV000369360	SCV000470570	benign	Ehlers-danlos syndrome, arthrochalasia 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000248234	SCV000516226	benign	not specified	2016-03-03	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.
Athena Diagnostics	RCV000248234	SCV000612926	benign	not specified	2017-07-26	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812670	SCV001158742	benign	not provided	2023-11-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000369360	SCV001821863	benign	Ehlers-danlos syndrome, arthrochalasia type, 2	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001589221	SCV001821866	benign	Osteogenesis imperfecta, perinatal lethal	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001589219	SCV001821867	benign	Osteogenesis imperfecta type III	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001589220	SCV001821868	benign	Osteogenesis imperfecta with normal sclerae, dominant form	2021-07-22	criteria provided, single submitter	clinical testing
Invitae	RCV002057300	SCV002392126	benign	Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1	2024-02-01	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000248234	SCV001741500	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000248234	SCV001808176	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000248234	SCV001959317	benign	not specified		no assertion criteria provided	clinical testing