Submissions for variant NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp)

gnomAD frequency: 0.00124  dbSNP: rs139468527

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001705097	SCV000249863	benign	not provided	2020-02-13	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24036952, 28748566, 30858776, 31903434)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001507207	SCV000283477	benign	Ehlers-Danlos syndrome, classic type, 1	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002310766	SCV000319427	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2017-07-19	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.
Illumina Laboratory Services, Illumina	RCV000307176	SCV000478498	likely benign	Ehlers-Danlos syndrome type 7A	2016-06-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001705097	SCV000603176	benign	not provided	2023-11-16	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659435	SCV000781249	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001507207	SCV002554008	benign	Ehlers-Danlos syndrome, classic type, 1	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270012	SCV002554019	benign	Fibromuscular dysplasia, multifocal	2022-03-15	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277482	SCV002565683	benign	Ehlers-Danlos syndrome	2021-08-16	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003323441	SCV004029963	likely benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001705097	SCV004701414	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	COL5A1: BS1, BS2