ClinVar Miner

Submissions for variant NM_005026.5(PIK3CD):c.1629G>A (p.Pro543=)

gnomAD frequency: 0.00007  dbSNP: rs190710687
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000904955 SCV001049512 benign Immunodeficiency 14 2023-10-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424462 SCV004128332 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing PIK3CD: BP4, BP7
Genetic Services Laboratory, University of Chicago RCV003151203 SCV003839835 likely benign not specified 2022-05-06 no assertion criteria provided clinical testing

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