Submissions for variant NM_002292.4(LAMB2):c.3858G>T (p.Val1286=)

gnomAD frequency: 0.00312  dbSNP: rs34967349

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001080493	SCV000651549	benign	Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000554943	SCV001144402	benign	not provided	2019-07-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001148143	SCV001309013	likely benign	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV001148144	SCV001309014	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.
Genetic Services Laboratory, University of Chicago	RCV001821592	SCV002066391	likely benign	not specified	2017-11-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001080493	SCV002805439	likely benign	Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome	2021-07-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000554943	SCV004034000	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	LAMB2: BP4, BP7, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000554943	SCV001932726	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000554943	SCV001966623	likely benign	not provided		no assertion criteria provided	clinical testing