Submissions for variant NM_000089.4(COL1A2):c.2904C>T (p.Pro968=)

gnomAD frequency: 0.00013  dbSNP: rs142352627

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000710782	SCV000335045	uncertain significance	not provided	2015-09-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000710782	SCV000534029	likely benign	not provided	2020-11-16	criteria provided, single submitter	clinical testing
Invitae	RCV001089359	SCV000627330	benign	Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1	2023-12-07	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000710782	SCV000841086	benign	not provided	2018-05-23	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001161215	SCV001323071	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.
Illumina Laboratory Services, Illumina	RCV001161216	SCV001323072	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000710782	SCV001477722	likely benign	not provided	2020-02-14	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278275	SCV002565576	likely benign	Ehlers-Danlos syndrome	2018-09-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002436101	SCV002751879	likely benign	Cardiovascular phenotype	2019-03-01	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV000710782	SCV004162529	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	COL1A2: BP4, BP7