Submissions for variant NM_000314.8(PTEN):c.174T>C (p.Asp58=)

dbSNP: rs769719835

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000195787	SCV000253235	likely benign	PTEN hamartoma tumor syndrome	2024-11-18	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000581140	SCV000686280	likely benign	Hereditary cancer-predisposing syndrome	2017-03-06	criteria provided, single submitter	clinical testing
GeneDx	RCV001284055	SCV000722461	likely benign	not provided	2019-02-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000581140	SCV001173477	likely benign	Hereditary cancer-predisposing syndrome	2018-03-09	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.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001284055	SCV001469635	likely benign	not provided	2020-08-11	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000581140	SCV002528223	uncertain significance	Hereditary cancer-predisposing syndrome	2021-11-06	criteria provided, single submitter	curation