Submissions for variant NM_000093.5(COL5A1):c.1590C>T (p.Gly530=)

dbSNP: rs769010469

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000196875	SCV000249736	benign	not specified	2015-02-05	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002229443	SCV000823030	likely benign	Ehlers-Danlos syndrome, classic type, 1	2024-12-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002229443	SCV002554112	benign	Ehlers-Danlos syndrome, classic type, 1	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269975	SCV002554113	benign	Fibromuscular dysplasia, multifocal	2022-03-15	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277463	SCV002565677	likely benign	Ehlers-Danlos syndrome	2022-03-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003372647	SCV004096354	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-07-24	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.