ClinVar Miner

Submissions for variant NM_181523.3(PIK3R1):c.2109T>C (p.Leu703=)

gnomAD frequency: 0.04683  dbSNP: rs3729981
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147275 SCV000194647 likely benign not specified 2013-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000558342 SCV000636882 benign SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000836840 SCV000978688 benign not provided 2018-05-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Breakthrough Genomics, Breakthrough Genomics RCV000836840 SCV005222007 likely benign not provided criteria provided, single submitter not provided

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