Submissions for variant NM_181523.3(PIK3R1):c.427+5C>A

gnomAD frequency: 0.00088  dbSNP: rs375394677

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000971748	SCV001119412	likely benign	SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36	2024-01-20	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001531423	SCV001746506	likely benign	not provided	2021-10-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001819117	SCV002069761	likely benign	not specified	2017-08-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003962885	SCV004784989	likely benign	PIK3R1-related condition	2022-11-07	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001531423	SCV001927610	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001531423	SCV001963816	likely benign	not provided		no assertion criteria provided	clinical testing