ClinVar Miner

Submissions for variant NM_005026.5(PIK3CD):c.2998-18G>A

gnomAD frequency: 0.00004  dbSNP: rs554946921
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001519946 SCV001728913 benign Immunodeficiency 14 2024-01-24 criteria provided, single submitter clinical testing

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