Submissions for variant NM_000228.3(LAMB3):c.1188C>T (p.Thr396=)

gnomAD frequency: 0.00082  dbSNP: rs115883756

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000363394	SCV000334656	benign	not specified	2015-08-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000329333	SCV000353637	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000892047	SCV001035900	benign	not provided	2025-01-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000892047	SCV001841213	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000892047	SCV005261656	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003977749	SCV004789307	benign	LAMB3-related disorder	2020-02-11	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).