Submissions for variant NM_000314.8(PTEN):c.759C>T (p.Ile253=)

dbSNP: rs752250585

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000469547	SCV000554538	likely benign	PTEN hamartoma tumor syndrome	2023-11-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000491272	SCV000580042	likely benign	Hereditary cancer-predisposing syndrome	2020-05-18	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.
Color Diagnostics, LLC DBA Color Health	RCV000491272	SCV000686301	likely benign	Hereditary cancer-predisposing syndrome	2017-05-04	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000491272	SCV002528255	uncertain significance	Hereditary cancer-predisposing syndrome	2021-12-17	criteria provided, single submitter	curation
All of Us Research Program, National Institutes of Health	RCV000469547	SCV004838579	likely benign	PTEN hamartoma tumor syndrome	2023-05-16	criteria provided, single submitter	clinical testing