Submissions for variant NM_000426.4(LAMA2):c.8528A>G (p.Asn2843Ser)

gnomAD frequency: 0.02196  dbSNP: rs73599293

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224243	SCV000281419	benign	not provided	2015-09-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000117452	SCV000304191	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000321859	SCV000460087	likely benign	Congenital muscular dystrophy due to partial LAMA2 deficiency	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000117452	SCV000526405	benign	not specified	2016-05-18	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082331	SCV000658783	benign	LAMA2-related muscular dystrophy	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000576572	SCV000677342	benign	Merosin deficient congenital muscular dystrophy	2017-06-23	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000117452	SCV002050886	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002483197	SCV002797898	likely benign	Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23	2021-08-24	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000224243	SCV005227220	likely benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000117452	SCV000151669	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Clinical Genetics, Academic Medical Center	RCV000117452	SCV002034451	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000224243	SCV002036217	likely benign	not provided		no assertion criteria provided	clinical testing