ClinVar Miner

Submissions for variant NM_005026.5(PIK3CD):c.2319C>T (p.Ser773=)

gnomAD frequency: 0.01195  dbSNP: rs139848768
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536103 SCV000653767 benign Immunodeficiency 14 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003656120 SCV001157007 benign not provided 2023-10-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952848 SCV004778805 benign PIK3CD-related condition 2019-09-23 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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