ClinVar Miner

Submissions for variant NM_005026.5(PIK3CD):c.2820T>C (p.His940=)

gnomAD frequency: 0.00350  dbSNP: rs28730679
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506344 SCV000604663 benign Immunodeficiency 14 2020-04-24 criteria provided, single submitter clinical testing
Invitae RCV000506344 SCV000653769 benign Immunodeficiency 14 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001530982 SCV001745903 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing PIK3CD: BP4, BP7, BS2
Genetic Services Laboratory, University of Chicago RCV001821422 SCV002068895 benign not specified 2021-05-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925505 SCV004745816 benign PIK3CD-related condition 2019-07-31 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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