ClinVar Miner

Submissions for variant NM_181523.3(PIK3R1):c.978G>A (p.Met326Ile)

gnomAD frequency: 0.22679  dbSNP: rs3730089
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000121812 SCV000194651 likely benign not specified 2013-10-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000121812 SCV000540037 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755596 SCV000604666 benign not provided 2024-11-25 criteria provided, single submitter clinical testing
GeneDx RCV000755596 SCV000977482 benign not provided 2018-05-02 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001516993 SCV001725377 benign SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 2025-02-03 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000121812 SCV004102298 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 39% of patients studied by a panel of primary immunodeficiencies. Number of patients: 37. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV000755596 SCV005222532 likely benign not provided criteria provided, single submitter not provided
ITMI RCV000121812 SCV000086010 not provided not specified 2013-09-19 no assertion provided reference population

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