Submissions for variant NM_000093.5(COL5A1):c.2268C>T (p.Pro756=)

gnomAD frequency: 0.00004  dbSNP: rs367755808

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000197632	SCV000249745	benign	not specified	2014-12-05	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	RCV002229033	SCV000631464	likely benign	Ehlers-Danlos syndrome, classic type, 1	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002315528	SCV000738634	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-08-18	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.
Genome-Nilou Lab	RCV002229033	SCV002554153	benign	Ehlers-Danlos syndrome, classic type, 1	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269985	SCV002554155	benign	Fibromuscular dysplasia, multifocal	2022-03-15	criteria provided, single submitter	clinical testing