ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.3076C>T (p.Gln1026Ter) (rs1578999313)

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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 RCV001027974 SCV001190721 likely pathogenic Common variable immunodeficiency 8, with autoimmunity 2020-02-05 no assertion criteria provided clinical testing

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