ClinVar Miner

Submissions for variant NM_181523.3(PIK3R1):c.687G>A (p.Ser229=)

gnomAD frequency: 0.00140  dbSNP: rs34175949
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548238 SCV000636887 benign SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 2024-01-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001310503 SCV001500335 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing PIK3R1: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001310503 SCV004562880 likely benign not provided 2023-01-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001310503 SCV001931727 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001310503 SCV001973111 likely benign not provided no assertion criteria provided clinical testing

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