ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.8328G>A (p.Leu2776=)

gnomAD frequency: 0.00357  dbSNP: rs116828023
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000650444 SCV000772289 benign Combined immunodeficiency due to LRBA deficiency 2023-12-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437377 SCV004151150 benign not provided 2022-06-01 criteria provided, single submitter clinical testing LRBA: BP4, BP7, BS1, BS2

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