Submissions for variant NM_006059.4(LAMC3):c.2987G>A (p.Arg996His)

gnomAD frequency: 0.00063  dbSNP: rs113785045

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000501580	SCV000595551	uncertain significance	not specified	2017-02-13	criteria provided, single submitter	clinical testing
Invitae	RCV000914143	SCV001059304	likely benign	not provided	2024-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000914143	SCV001800917	likely benign	not provided	2018-12-13	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30924900)
Ambry Genetics	RCV002524219	SCV003681362	likely benign	Inborn genetic diseases	2021-09-01	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV000914143	SCV004699808	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	LAMC3: BP4
PreventionGenetics, part of Exact Sciences	RCV003925475	SCV004740918	likely benign	LAMC3-related condition	2023-02-24	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).