Submissions for variant NM_000393.5(COL5A2):c.2376A>C (p.Gly792=)

gnomAD frequency: 0.00078  dbSNP: rs35860166

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177825	SCV000229765	benign	not specified	2015-05-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001704848	SCV000523515	likely benign	not provided	2021-11-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000634660	SCV000755994	benign	Ehlers-Danlos syndrome, classic type, 1	2025-02-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002444710	SCV002735061	benign	Familial thoracic aortic aneurysm and aortic dissection	2020-04-13	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000177825	SCV004038894	benign	not specified	2023-08-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001704848	SCV005262447	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003967427	SCV004781245	likely benign	COL5A2-related disorder	2021-05-05	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).