Submissions for variant NM_001844.5(COL2A1):c.2095-4G>A

gnomAD frequency: 0.00089  dbSNP: rs111570218

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000405439	SCV000379014	benign	Type II Collagenopathies	2018-01-12	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	RCV000284682	SCV000379015	likely benign	Stickler syndrome type 1	2018-01-12	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	RCV000906542	SCV000525782	benign	not provided	2018-06-20	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000435560	SCV000703468	likely benign	not specified	2016-12-09	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659395	SCV000781206	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
Invitae	RCV000906542	SCV001051187	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000435560	SCV001157017	benign	not specified	2018-12-10	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002502212	SCV002806690	likely benign	Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multiple epiphyseal dysplasia, Beighton type; Legg-Calve-Perthes disease; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondylometaphyseal dysplasia - Sutcliffe type; Spondyloepiphyseal dysplasia congenita; Czech dysplasia, metatarsal type; Stickler syndrome, type I, nonsyndromic ocular; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Spondyloepiphyseal dysplasia, Stanescu type; Spondyloepimetaphyseal dysplasia, Strudwick type	2021-12-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000906542	SCV004130670	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	COL2A1: BP4, BS1