Submissions for variant NM_000090.4(COL3A1):c.2022+5T>C

gnomAD frequency: 0.00448  dbSNP: rs41263765

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000181053	SCV000233329	benign	not specified	2014-10-20	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.
PreventionGenetics, part of Exact Sciences	RCV000181053	SCV000302030	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000769569	SCV000319185	benign	Familial thoracic aortic aneurysm and aortic dissection	2014-06-03	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000458021	SCV000554717	benign	Ehlers-Danlos syndrome, type 4	2025-01-29	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769569	SCV000900966	benign	Familial thoracic aortic aneurysm and aortic dissection	2016-06-24	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000769569	SCV000903386	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-09-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812163	SCV001159063	benign	not provided	2024-02-16	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000458021	SCV001299085	benign	Ehlers-Danlos syndrome, type 4	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.
Genetic Services Laboratory, University of Chicago	RCV000181053	SCV002067931	benign	not specified	2019-07-22	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277434	SCV002565616	benign	Ehlers-Danlos syndrome	2020-06-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001812163	SCV005330952	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	COL3A1: BS1
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000181053	SCV001808511	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000181053	SCV001932993	benign	not specified		no assertion criteria provided	clinical testing