Submissions for variant NM_000093.5(COL5A1):c.378G>T (p.Gln126His)

gnomAD frequency: 0.00192  dbSNP: rs145178917

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124477	SCV000167910	benign	not specified	2014-03-06	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	RCV000230136	SCV000283488	benign	Ehlers-Danlos syndrome, classic type, 1	2024-01-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000124477	SCV000302202	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000124477	SCV000336132	benign	not specified	2015-10-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000332566	SCV000478504	likely benign	Ehlers-Danlos syndrome type 7A	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312847	SCV000738420	benign	Familial thoracic aortic aneurysm and aortic dissection	2016-12-20	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.
Genome-Nilou Lab	RCV000230136	SCV002554045	benign	Ehlers-Danlos syndrome, classic type, 1	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269917	SCV002554046	benign	Fibromuscular dysplasia, multifocal	2022-03-15	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277223	SCV002565727	benign	Ehlers-Danlos syndrome	2021-10-19	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002505082	SCV002806386	benign	Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal	2021-11-11	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000124477	SCV003928724	likely benign	not specified	2023-04-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003992190	SCV004810978	benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	COL5A1: BS1, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000124477	SCV002034043	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000124477	SCV002035234	benign	not specified		no assertion criteria provided	clinical testing