Submissions for variant NM_000093.5(COL5A1):c.4230+5C>T

gnomAD frequency: 0.00182  dbSNP: rs142248898

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124451	SCV000167884	benign	not specified	2013-02-22	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.
Invitae	RCV001507189	SCV000283493	benign	Ehlers-Danlos syndrome, classic type, 1	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000124451	SCV000302213	likely benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000124451	SCV000340993	likely benign	not specified	2016-05-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000376400	SCV000478571	likely benign	Ehlers-Danlos syndrome type 7A	2016-06-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001705907	SCV000603179	benign	not provided	2023-11-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000157145	SCV000738581	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-12-21	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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659459	SCV000781274	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000999971	SCV001329968	benign	Ehlers-Danlos syndrome, classic type	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.
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001198807	SCV001369802	likely benign	Ehlers-Danlos syndrome, classic type, 2	2018-10-22	criteria provided, single submitter	clinical testing	This variant was classified as: Likely benign. The following ACMG criteria were applied in classifying this variant: BP4,BP6.
CeGaT Center for Human Genetics Tuebingen	RCV001705907	SCV002546121	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	COL5A1: BP4, BS1
Genome-Nilou Lab	RCV001507189	SCV002554602	benign	Ehlers-Danlos syndrome, classic type, 1	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269894	SCV002554604	benign	Fibromuscular dysplasia, multifocal	2022-03-15	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277208	SCV002565742	likely benign	Ehlers-Danlos syndrome	2021-05-17	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000124451	SCV004039232	benign	not specified	2023-08-24	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV000157145	SCV000206868	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2014-04-11	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001705907	SCV001928619	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001705907	SCV001972999	likely benign	not provided		no assertion criteria provided	clinical testing