ClinVar Miner

Submissions for variant NM_181523.3(PIK3R1):c.1020-3C>T

gnomAD frequency: 0.00031  dbSNP: rs200653607
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638597 SCV000760134 likely benign SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 2024-01-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816586 SCV002066310 uncertain significance not specified 2017-11-02 criteria provided, single submitter clinical testing

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