Submissions for variant NM_000093.5(COL5A1):c.278C>T (p.Ala93Val)

gnomAD frequency: 0.00315  dbSNP: rs41306397

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000198362	SCV000249771	likely benign	not specified	2017-10-25	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	RCV002229447	SCV000283482	likely benign	Ehlers-Danlos syndrome, classic type, 1	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000198362	SCV000302175	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000331914	SCV000478501	likely benign	Ehlers-Danlos syndrome type 7A	2016-06-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001580102	SCV000603183	likely benign	not provided	2023-02-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002315531	SCV000738332	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-12-14	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.
Eurofins Ntd Llc (ga)	RCV000198362	SCV000854878	likely benign	not specified	2018-06-05	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001000026	SCV001327900	benign	Ehlers-Danlos syndrome, classic type	2018-02-06	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Genome-Nilou Lab	RCV002229447	SCV002554040	benign	Ehlers-Danlos syndrome, classic type, 1	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270003	SCV002554041	benign	Fibromuscular dysplasia, multifocal	2022-03-15	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277470	SCV002565702	benign	Ehlers-Danlos syndrome	2021-03-19	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University Hospital Muenster	RCV003128394	SCV003804835	likely benign	Marfan syndrome	2022-05-11	criteria provided, single submitter	clinical testing	ACMG categories: BS2,BP1,BP6
CeGaT Center for Human Genetics Tuebingen	RCV001580102	SCV003917730	benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	COL5A1: BP4, BS1, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000198362	SCV004029506	likely benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001580102	SCV001809686	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001580102	SCV001930464	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001580102	SCV001964399	likely benign	not provided		no assertion criteria provided	clinical testing