ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.6036C>T (p.Ala2012=)

gnomAD frequency: 0.00068  dbSNP: rs145411537
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000960528 SCV001107513 likely benign Combined immunodeficiency due to LRBA deficiency 2024-01-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001200459 SCV001371430 uncertain significance not provided 2020-04-01 criteria provided, single submitter clinical testing

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