Submissions for variant NM_000093.5(COL5A1):c.1998C>T (p.Asp666=)

gnomAD frequency: 0.00071  dbSNP: rs143858735

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000195631	SCV000249741	benign	not specified	2015-04-28	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	RCV002269980	SCV000559988	benign	Ehlers-Danlos syndrome, classic type, 1	2024-10-30	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812189	SCV002049962	benign	not provided	2020-11-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269980	SCV002554138	benign	Ehlers-Danlos syndrome, classic type, 1	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269981	SCV002554139	benign	Fibromuscular dysplasia, multifocal	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002415832	SCV002720059	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2020-02-12	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.