ClinVar Miner

Submissions for variant NM_005026.5(PIK3CD):c.436T>A (p.Phe146Ile)

gnomAD frequency: 0.00117  dbSNP: rs142285826
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000550578 SCV000653774 benign Immunodeficiency 14 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001815405 SCV002062389 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing PIK3CD: PP2, BS1
Genetic Services Laboratory, University of Chicago RCV001821612 SCV002065683 benign not specified 2019-12-06 criteria provided, single submitter clinical testing

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