Submissions for variant NM_000455.5(STK11):c.303A>G (p.Leu101=)

dbSNP: rs1057522543

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000434453	SCV000528318	likely benign	not specified	2016-05-26	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000543387	SCV000629106	likely benign	Peutz-Jeghers syndrome	2023-12-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000574717	SCV000672359	likely benign	Hereditary cancer-predisposing syndrome	2016-11-14	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	RCV000574717	SCV000686628	likely benign	Hereditary cancer-predisposing syndrome	2017-01-12	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000543387	SCV004816335	likely benign	Peutz-Jeghers syndrome	2023-07-07	criteria provided, single submitter	clinical testing