Submissions for variant NM_000455.5(STK11):c.726G>T (p.Gly242=)

dbSNP: rs776823114

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249987	SCV000304393	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000249987	SCV000521576	likely benign	not specified	2015-11-24	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.
Ambry Genetics	RCV000574507	SCV000664327	likely benign	Hereditary cancer-predisposing syndrome	2015-07-21	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.
Color Diagnostics, LLC DBA Color Health	RCV000574507	SCV000686679	likely benign	Hereditary cancer-predisposing syndrome	2017-03-06	criteria provided, single submitter	clinical testing
Invitae	RCV000632865	SCV000754061	likely benign	Peutz-Jeghers syndrome	2023-11-18	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000632865	SCV004818894	likely benign	Peutz-Jeghers syndrome	2023-12-13	criteria provided, single submitter	clinical testing