Submissions for variant NM_006218.4(PIK3CA):c.2181A>T (p.Thr727=)

gnomAD frequency: 0.00117  dbSNP: rs116336243

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000237071	SCV000294327	benign	Cowden syndrome	2024-10-23	criteria provided, single submitter	clinical testing
GeneDx	RCV001538365	SCV001756004	benign	not provided	2021-05-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002429160	SCV002730601	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	RCV003316316	SCV004016568	benign	Cowden syndrome 5	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001538365	SCV005042031	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	PIK3CA: BP4, BP7, BS1
Breakthrough Genomics, Breakthrough Genomics	RCV001538365	SCV005262944	likely benign	not provided		criteria provided, single submitter	not provided