ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.1306G>A (p.Gly436Ser)

gnomAD frequency: 0.00096  dbSNP: rs142402808
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658961 SCV000780764 uncertain significance not provided 2018-01-01 criteria provided, single submitter clinical testing
Invitae RCV001087289 SCV001021884 likely benign Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2024-01-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001150041 SCV001311048 likely benign Pierson syndrome 2017-07-24 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 RCV001150042 SCV001311049 likely benign LAMB2-related infantile-onset nephrotic syndrome 2017-07-24 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.
PreventionGenetics, part of Exact Sciences RCV003965421 SCV004791600 likely benign LAMB2-related condition 2020-02-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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