Submissions for variant NM_006059.4(LAMC3):c.4146G>C (p.Arg1382Ser)

dbSNP: rs147092908

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000287280	SCV000329395	benign	not specified	2017-10-24	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.
Eurofins Ntd Llc (ga)	RCV000727483	SCV000708961	uncertain significance	not provided	2017-06-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000727483	SCV001096467	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000727483	SCV001155772	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	LAMC3: BP4, BS2
Genetic Services Laboratory, University of Chicago	RCV000287280	SCV002072259	likely benign	not specified	2017-08-28	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000727483	SCV001809178	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000727483	SCV001965997	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003920031	SCV004733343	likely benign	LAMC3-related disorder	2019-11-21	no assertion criteria provided	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).