Submissions for variant NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys)

gnomAD frequency: 0.00039  dbSNP: rs192317605

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000501465	SCV000595514	likely benign	not specified	2015-10-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000535129	SCV000658646	benign	LAMA2-related muscular dystrophy	2025-01-06	criteria provided, single submitter	clinical testing
Counsyl	RCV000665212	SCV000789289	uncertain significance	Merosin deficient congenital muscular dystrophy	2017-01-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001153747	SCV001315050	uncertain significance	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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Knight Diagnostic Laboratories, Oregon Health and Sciences University	RCV001270112	SCV001448961	likely benign	Muscular dystrophy, limb-girdle, autosomal recessive 23	2018-06-22	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV001507679	SCV001713374	uncertain significance	not provided	2019-04-03	criteria provided, single submitter	clinical testing