ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.8018-13dup

dbSNP: rs773155703
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001516735 SCV001725066 benign Combined immunodeficiency due to LRBA deficiency 2022-07-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434303 SCV004151151 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing LRBA: BP4

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