ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.4158+1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003142361 SCV003807929 likely pathogenic Combined immunodeficiency due to LRBA deficiency 2022-09-28 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderated

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