ClinVar Miner

Submissions for variant NM_005026.5(PIK3CD):c.935C>G (p.Ser312Cys)

gnomAD frequency: 0.01937  dbSNP: rs61755420
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810998 SCV000604660 benign not provided 2023-10-26 criteria provided, single submitter clinical testing
Invitae RCV000532966 SCV000653781 benign Immunodeficiency 14 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001810998 SCV004184990 benign not provided 2024-02-01 criteria provided, single submitter clinical testing PIK3CD: BP4, BS1, BS2

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