Submissions for variant NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=)

gnomAD frequency: 0.00034  dbSNP: rs149959668

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124461	SCV000167894	benign	not specified	2013-11-01	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	RCV000124461	SCV000302226	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311009	SCV000319848	benign	Familial thoracic aortic aneurysm and aortic dissection	2016-01-08	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.
Illumina Laboratory Services, Illumina	RCV000260729	SCV000478583	likely benign	Ehlers-Danlos syndrome type 7A	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000459775	SCV000559966	benign	Ehlers-Danlos syndrome, classic type, 1	2024-01-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000124461	SCV000603170	benign	not specified	2016-09-21	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000459775	SCV002554644	benign	Ehlers-Danlos syndrome, classic type, 1	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269903	SCV002554645	benign	Fibromuscular dysplasia, multifocal	2022-03-15	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277214	SCV002565762	likely benign	Ehlers-Danlos syndrome	2021-09-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003221811	SCV003917732	benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	COL5A1: BP4, BP7, BS1, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000124461	SCV004029915	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000124461	SCV001932065	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000124461	SCV001966318	benign	not specified		no assertion criteria provided	clinical testing