ClinVar Miner

Submissions for variant NM_005026.5(PIK3CD):c.2997+10G>A

gnomAD frequency: 0.00009  dbSNP: rs377699493
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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 RCV000912130 SCV001057219 likely benign Immunodeficiency 14 2024-09-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479055 SCV002795508 likely benign Combined immunodeficiency with faciooculoskeletal anomalies; Immunodeficiency 14; Immunodeficiency 14b, autosomal recessive 2021-11-04 criteria provided, single submitter clinical testing

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