Submissions for variant NM_002292.4(LAMB2):c.2307C>T (p.Leu769=)

gnomAD frequency: 0.00235  dbSNP: rs147076626

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV003891904	SCV000308801	benign	LAMB2-related condition	2019-10-01	criteria provided, single submitter	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).
Invitae	RCV000544546	SCV000651531	benign	Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome	2024-01-26	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001149917	SCV001310917	uncertain significance	LAMB2-related infantile-onset nephrotic syndrome	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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV001149918	SCV001310918	likely benign	Pierson syndrome	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 Diagnostics Laboratory, The Hospital for Sick Children	RCV002294125	SCV002587434	likely benign	Focal segmental glomerulosclerosis	2018-03-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001699089	SCV004154542	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	LAMB2: BP4, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001699089	SCV001926770	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001699089	SCV001966102	likely benign	not provided		no assertion criteria provided	clinical testing