Submissions for variant NM_005562.3(LAMC2):c.1899G>C (p.Leu633=)

gnomAD frequency: 0.00257  dbSNP: rs141812464

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000402125	SCV000341306	uncertain significance	not provided	2016-04-22	criteria provided, single submitter	clinical testing
Invitae	RCV000402125	SCV001033448	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001100521	SCV001257046	likely benign	Junctional epidermolysis bullosa	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.
Genome-Nilou Lab	RCV001526750	SCV001737247	likely benign	Junctional epidermolysis bullosa gravis of Herlitz	2021-05-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000402125	SCV004123947	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	LAMC2: BP4, BP7