Submissions for variant NM_006218.4(PIK3CA):c.363C>T (p.Ile121=)

gnomAD frequency: 0.00769  dbSNP: rs115746478

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000206083	SCV000261929	benign	Cowden syndrome	2025-02-03	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001711361	SCV001159511	benign	not provided	2020-12-05	criteria provided, single submitter	clinical testing
GeneDx	RCV001711361	SCV001941332	benign	not provided	2019-01-04	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001579917	SCV002071021	benign	not specified	2018-09-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002453746	SCV002614210	likely benign	Inborn genetic diseases	2022-02-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV001711361	SCV002821230	benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	PIK3CA: BP4, BP7, BS1, BS2
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316147	SCV004016565	benign	Cowden syndrome 5	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001711361	SCV005302467	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579917	SCV001809025	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001579917	SCV001924561	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001711361	SCV001976160	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001579917	SCV002035401	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004530242	SCV004740523	benign	PIK3CA-related disorder	2019-04-10	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).