Submissions for variant NM_006218.4(PIK3CA):c.2592C>T (p.Gly864=)

gnomAD frequency: 0.00002  dbSNP: rs780492649

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001307339	SCV001496746	likely benign	Cowden syndrome	2023-08-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002430117	SCV002743219	likely benign	Inborn genetic diseases	2022-04-23	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.
Breakthrough Genomics, Breakthrough Genomics	RCV004692460	SCV005189897	uncertain significance	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004545194	SCV004776100	likely benign	PIK3CA-related disorder	2020-03-02	no assertion criteria provided	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).