Submissions for variant NM_000090.4(COL3A1):c.1816-19T>C

gnomAD frequency: 0.00647  dbSNP: rs114299724

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124403	SCV000167836	benign	not specified	2013-02-21	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	RCV000124403	SCV000302024	benign	not specified		criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659419	SCV000781232	likely benign	Ehlers-Danlos syndrome, type 4	2016-11-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811204	SCV001472589	benign	not provided	2023-09-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000659419	SCV002373364	benign	Ehlers-Danlos syndrome, type 4	2025-02-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002496447	SCV002804271	benign	Ehlers-Danlos syndrome, type 4; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome	2022-03-02	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000029619	SCV000052271	benign	Familial aortopathy	2015-06-04	no assertion criteria provided	clinical testing