Submissions for variant NM_000314.8(PTEN):c.165-8_165-4del

dbSNP: rs760571273

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000583635	SCV000691150	likely benign	Hereditary cancer-predisposing syndrome	2016-11-18	criteria provided, single submitter	clinical testing
Counsyl	RCV000662527	SCV000785091	likely benign	Cowden syndrome 1	2018-05-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001712602	SCV001945664	likely benign	not provided	2023-10-02	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002061912	SCV002400017	likely benign	PTEN hamartoma tumor syndrome	2023-12-27	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000583635	SCV002528221	likely benign	Hereditary cancer-predisposing syndrome	2021-06-03	criteria provided, single submitter	curation
Ambry Genetics	RCV000583635	SCV002707108	likely benign	Hereditary cancer-predisposing syndrome	2021-09-25	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.
Myriad Genetics, Inc.	RCV000662527	SCV004019953	likely benign	Cowden syndrome 1	2023-04-05	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.