Submissions for variant NM_000455.5(STK11):c.537G>T (p.Pro179=)

dbSNP: rs528535500

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000213934	SCV000273538	likely benign	Hereditary cancer-predisposing syndrome	2015-01-21	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.
Invitae	RCV000938462	SCV001084272	likely benign	Peutz-Jeghers syndrome	2024-01-27	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000213934	SCV001357018	likely benign	Hereditary cancer-predisposing syndrome	2019-11-11	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798713	SCV002042770	likely benign	Breast and/or ovarian cancer	2019-10-31	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000938462	SCV004816369	likely benign	Peutz-Jeghers syndrome	2023-11-28	criteria provided, single submitter	clinical testing