ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.703C>T (p.Arg235Trp)

gnomAD frequency: 0.00071  dbSNP: rs144133177
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088975 SCV001018645 likely benign Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2023-11-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000876120 SCV001153954 uncertain significance not provided 2017-12-01 criteria provided, single submitter clinical testing
GeneDx RCV000876120 SCV001825024 uncertain significance not provided 2021-03-01 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003908327 SCV004721952 likely benign LAMB2-related condition 2023-02-16 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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