Submissions for variant NM_006059.4(LAMC3):c.1520-6G>A

gnomAD frequency: 0.00175  dbSNP: rs192031352

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000726372	SCV000344136	uncertain significance	not provided	2016-07-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000342276	SCV000518458	likely benign	not specified	2017-04-14	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.
Invitae	RCV000726372	SCV001025557	likely benign	not provided	2024-01-27	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000342276	SCV002072256	uncertain significance	not specified	2017-11-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000726372	SCV004701426	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	LAMC3: BP4
PreventionGenetics, part of Exact Sciences	RCV003920158	SCV004729805	likely benign	LAMC3-related condition	2023-05-19	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).
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV001252295	SCV001428047	likely benign	Intellectual disability	2019-01-01	no assertion criteria provided	clinical testing