Submissions for variant NM_181523.3(PIK3R1):c.334+14A>C

gnomAD frequency: 0.31124  dbSNP: rs706714

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147277	SCV000194649	likely benign	not specified	2013-10-31	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000147277	SCV000540035	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	RCV001812118	SCV001159487	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Invitae	RCV001511909	SCV001719231	benign	SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001788049	SCV002029896	benign	Agammaglobulinemia 7, autosomal recessive	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001788051	SCV002029897	benign	Immunodeficiency 36	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001788050	SCV002029898	benign	SHORT syndrome	2021-09-05	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000147277	SCV004102084	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 54% of patients studied by a panel of primary immunodeficiencies. Number of patients: 52. Only high quality variants are reported.