Submissions for variant NM_005027.4(PIK3R2):c.817A>T (p.Ser273Cys)

gnomAD frequency: 0.00055  dbSNP: rs147990742

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000732847	SCV000860840	benign	not specified	2018-04-25	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000952352	SCV001098849	likely benign	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	2023-12-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001672948	SCV001889763	benign	not provided	2020-04-21	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000732847	SCV002071566	benign	not specified	2019-06-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001672948	SCV004145229	benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	PIK3R2: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001672948	SCV005210778	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003918216	SCV004744667	benign	PIK3R2-related disorder	2019-09-20	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).