Submissions for variant NM_000393.5(COL5A2):c.1618-19C>G

gnomAD frequency: 0.00148  dbSNP: rs189970491

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124501	SCV000167934	benign	not specified	2013-02-25	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	RCV000124501	SCV000303978	benign	not specified		criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659473	SCV000781288	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001802946	SCV002049724	benign	Ehlers-Danlos syndrome, classic type, 2	2023-10-30	criteria provided, single submitter	clinical testing
Invitae	RCV002055500	SCV002466348	benign	Ehlers-Danlos syndrome, classic type, 1	2024-01-31	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000124501	SCV004803804	benign	not specified	2024-01-28	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000124501	SCV001809032	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701607	SCV001930637	likely benign	not provided		no assertion criteria provided	clinical testing