Submissions for variant NM_000093.5(COL5A1):c.4812C>T (p.Tyr1604=)

gnomAD frequency: 0.00005  dbSNP: rs542783734

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001697573	SCV000719430	likely benign	not provided	2020-12-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000634692	SCV000756026	benign	Ehlers-Danlos syndrome, classic type, 1	2025-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000634692	SCV002554657	benign	Ehlers-Danlos syndrome, classic type, 1	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270774	SCV002554660	benign	Fibromuscular dysplasia, multifocal	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002341566	SCV002635014	benign	Familial thoracic aortic aneurysm and aortic dissection	2020-11-23	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003323632	SCV004029992	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001697573	SCV005877524	benign	not provided	2024-05-21	criteria provided, single submitter	clinical testing