Submissions for variant NM_000093.5(COL5A1):c.110-19T>C

gnomAD frequency: 0.00239  dbSNP: rs148294644

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000197882	SCV000249768	benign	not specified	2014-07-31	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.
PreventionGenetics, part of Exact Sciences	RCV000197882	SCV000302132	likely benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054287	SCV002362963	benign	Ehlers-Danlos syndrome, classic type, 1	2024-12-02	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002054287	SCV002553986	benign	Ehlers-Danlos syndrome, classic type, 1	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270002	SCV002553997	benign	Fibromuscular dysplasia, multifocal	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000197882	SCV004029995	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing