ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.6223C>T (p.Leu2075Phe)

dbSNP: rs1772352730
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332814 SCV001525237 uncertain significance Combined immunodeficiency due to LRBA deficiency 2019-04-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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