Submissions for variant NM_002292.4(LAMB2):c.2740G>A (p.Gly914Arg)

gnomAD frequency: 0.03588  dbSNP: rs35713889

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247257	SCV000308803	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000307336	SCV000445305	benign	Pierson syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000371274	SCV000445306	benign	LAMB2-related infantile-onset nephrotic syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000556669	SCV000651535	benign	Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000247257	SCV000700562	benign	not specified	2017-04-07	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000712177	SCV000842607	benign	not provided	2017-11-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000712177	SCV001936478	benign	not provided	2020-12-02	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26239645, 28146470)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294127	SCV002587440	benign	Kidney disorder	2021-12-08	criteria provided, single submitter	clinical testing