Submissions for variant NM_006218.4(PIK3CA):c.1143C>G (p.Pro381=)

gnomAD frequency: 0.00303  dbSNP: rs72561481

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000473850	SCV000554284	benign	Cowden syndrome	2025-01-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001533820	SCV001750687	benign	not provided	2020-09-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002451149	SCV002614583	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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316577	SCV004016569	benign	Cowden syndrome 5	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001533820	SCV004149438	likely benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	PIK3CA: BP4, BP7, BS1
Breakthrough Genomics, Breakthrough Genomics	RCV001533820	SCV005302472	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001796063	SCV002034312	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001533820	SCV002036374	likely benign	not provided		no assertion criteria provided	clinical testing