Submissions for variant NM_181523.3(PIK3R1):c.621T>C (p.Ile207=)

gnomAD frequency: 0.02836  dbSNP: rs61749601

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147278	SCV000194650	likely benign	not specified	2013-10-31	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000147278	SCV000540036	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	RCV001719922	SCV000604665	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000551418	SCV000636884	benign	SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001719922	SCV001947307	benign	not provided	2019-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001719922	SCV005220312	likely benign	not provided		criteria provided, single submitter	not provided