ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.3443G>A (p.Arg1148His)

gnomAD frequency: 0.00663  dbSNP: rs138774635
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000539549 SCV000651542 benign Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2025-01-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001145385 SCV001306054 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001145386 SCV001306055 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx RCV001618730 SCV001842732 benign not provided 2020-03-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23595123, 30013592)
Breakthrough Genomics, Breakthrough Genomics RCV001618730 SCV005300487 benign not provided criteria provided, single submitter not provided

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