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

dbSNP: rs776823114

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000420369	SCV000526908	likely benign	not specified	2016-04-14	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	RCV000569132	SCV000664303	likely benign	Hereditary cancer-predisposing syndrome	2015-09-09	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.
Invitae	RCV000632853	SCV000754049	likely benign	Peutz-Jeghers syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000569132	SCV000910045	likely benign	Hereditary cancer-predisposing syndrome	2018-08-14	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000632853	SCV004818893	likely benign	Peutz-Jeghers syndrome	2023-10-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV004546494	SCV005041403	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	STK11: BP4, BP7