ClinVar Miner

Submissions for variant NM_005026.5(PIK3CD):c.1573G>A (p.Glu525Lys) (rs587777389)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000119276 SCV000154711 pathogenic Immunodeficiency 14 2014-01-01 no assertion criteria provided literature only
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000119276 SCV000494172 pathogenic Immunodeficiency 14 no assertion criteria provided research This variant has been identified in an individual with immunodeficiency. Parental mosaicism was noted in an unaffected parent.

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