ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.8393C>T (p.Ser2798Leu)

gnomAD frequency: 0.18590  dbSNP: rs2290846
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455932 SCV000539549 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp RCV001513626 SCV001721275 benign Combined immunodeficiency due to LRBA deficiency 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001653798 SCV001869869 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000455932 SCV004102390 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 31% of patients studied by a panel of primary immunodeficiencies. Number of patients: 30. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001653798 SCV005305454 benign not provided criteria provided, single submitter not provided

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