ClinVar Miner

Submissions for variant NM_005026.5(PIK3CD):c.2265G>A (p.Lys755=)

gnomAD frequency: 0.00035  dbSNP: rs139778709
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000970539 SCV001118124 likely benign Immunodeficiency 14 2023-12-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001815465 SCV002062390 likely benign not provided 2021-12-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819107 SCV002070076 likely benign not specified 2021-08-30 criteria provided, single submitter clinical testing

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