Submissions for variant NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met)

gnomAD frequency: 0.09135  dbSNP: rs2306942

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078762	SCV000110622	benign	not specified	2016-01-20	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000078762	SCV000151651	benign	not specified	2013-09-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078762	SCV000304145	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000327660	SCV000460027	benign	Congenital muscular dystrophy due to partial LAMA2 deficiency	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000078762	SCV000519477	benign	not specified	2016-01-19	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	RCV001519183	SCV001728008	benign	LAMA2-related muscular dystrophy	2024-02-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000078762	SCV002050888	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000614705	SCV000734467	benign	Merosin deficient congenital muscular dystrophy		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001698960	SCV001922901	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000078762	SCV001931007	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000078762	SCV001956532	benign	not specified		no assertion criteria provided	clinical testing