ClinVar Miner

Submissions for variant NM_181523.3(PIK3R1):c.428-21G>A

gnomAD frequency: 0.28654  dbSNP: rs171649
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001681695 SCV001900711 benign not provided 2018-07-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788759 SCV002029899 benign Agammaglobulinemia 7, autosomal recessive 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788761 SCV002029901 benign Immunodeficiency 36 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788760 SCV002029902 benign SHORT syndrome 2021-09-05 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003394204 SCV004102013 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 61% of patients studied by a panel of primary immunodeficiencies. Number of patients: 59. Only high quality variants are reported.

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