ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.7850-1G>A

dbSNP: rs1729842757
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001283807 SCV001469202 likely pathogenic Combined immunodeficiency due to LRBA deficiency 2020-09-10 no assertion criteria provided clinical testing

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