Submissions for variant NM_181523.3(PIK3R1):c.219C>T (p.Tyr73=)

gnomAD frequency: 0.31073  dbSNP: rs706713

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147276	SCV000194648	likely benign	not specified	2013-10-31	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000147276	SCV000540034	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	RCV001657840	SCV000604664	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Invitae	RCV001520308	SCV001729372	benign	SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001657840	SCV001872123	benign	not provided	2018-06-29	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 17016694)
Genome-Nilou Lab	RCV001788046	SCV002029893	benign	Agammaglobulinemia 7, autosomal recessive	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001788048	SCV002029894	benign	Immunodeficiency 36	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001788047	SCV002029895	benign	SHORT syndrome	2021-09-05	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000147276	SCV004102083	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.
GenomeConnect, ClinGen	RCV001657840	SCV002074723	not provided	not provided		no assertion provided	phenotyping only	Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.