ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.8200C>T (p.Leu2734Phe)

gnomAD frequency: 0.00001  dbSNP: rs372949000
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000928479 SCV001074089 likely benign Combined immunodeficiency due to LRBA deficiency 2023-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002066072 SCV002497290 likely benign not provided 2022-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003903072 SCV004718231 likely benign LRBA-related condition 2023-04-25 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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