ClinVar Miner

Submissions for variant NM_181523.3(PIK3R1):c.1176C>T (p.Phe392=)

gnomAD frequency: 0.04903  dbSNP: rs3730090
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147274 SCV000194646 likely benign not specified 2013-10-31 criteria provided, single submitter clinical testing
Invitae RCV000638599 SCV000760136 benign SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001707535 SCV001935433 benign not provided 2018-12-10 criteria provided, single submitter clinical testing

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