ClinVar Miner

Submissions for variant NM_005026.5(PIK3CD):c.1470+15C>T

gnomAD frequency: 0.00003  dbSNP: rs375880685
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002217846 SCV002376681 benign Immunodeficiency 14 2024-01-20 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV002217846 SCV002556587 uncertain significance Immunodeficiency 14 2020-06-11 criteria provided, single submitter clinical testing BP4

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