ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.1347A>G (p.Ala449=)

gnomAD frequency: 0.10667  dbSNP: rs1201208
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001515472 SCV001723554 benign Combined immunodeficiency due to LRBA deficiency 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001676004 SCV001895173 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003399290 SCV004102454 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 26% of patients studied by a panel of primary immunodeficiencies. Number of patients: 25. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001676004 SCV005305497 benign not provided criteria provided, single submitter not provided

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