ClinVar Miner

Submissions for variant NM_005026.5(PIK3CD):c.886G>A (p.Val296Ile)

gnomAD frequency: 0.02942  dbSNP: rs28730668
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001000392 SCV000653779 benign Immunodeficiency 14 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811067 SCV001157180 benign not provided 2023-11-08 criteria provided, single submitter clinical testing

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