Submissions for variant NM_000093.5(COL5A1):c.1953C>T (p.Ser651=)

gnomAD frequency: 0.00101  dbSNP: rs78215347

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000197394	SCV000249739	benign	not specified	2014-09-16	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002269977	SCV000559975	benign	Ehlers-Danlos syndrome, classic type, 1	2023-12-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002315526	SCV000738574	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2017-07-10	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812188	SCV002049068	benign	not provided	2021-01-16	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269977	SCV002554131	benign	Ehlers-Danlos syndrome, classic type, 1	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269978	SCV002554133	benign	Fibromuscular dysplasia, multifocal	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000197394	SCV004029755	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927814	SCV004752056	likely benign	COL5A1-related disorder	2019-06-25	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).