Submissions for variant NM_006059.4(LAMC3):c.2517G>A (p.Thr839=)

gnomAD frequency: 0.00292  dbSNP: rs140540789

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000443100	SCV000513454	benign	not specified	2015-09-04	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.
Genetic Services Laboratory, University of Chicago	RCV000443100	SCV000595539	likely benign	not specified	2016-10-05	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000727482	SCV000708960	uncertain significance	not provided	2017-05-30	criteria provided, single submitter	clinical testing
Invitae	RCV000727482	SCV001034503	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000727482	SCV004156556	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	LAMC3: BP4
PreventionGenetics, part of Exact Sciences	RCV003912621	SCV004733467	likely benign	LAMC3-related condition	2020-08-10	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).