Submissions for variant NM_000455.5(STK11):c.129C>G (p.Ala43=)

dbSNP: rs1555734970

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000581197	SCV000691486	likely benign	Hereditary cancer-predisposing syndrome	2017-09-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000679316	SCV000806073	likely benign	not provided	2018-01-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000581197	SCV002691066	likely benign	Hereditary cancer-predisposing syndrome	2022-06-30	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	RCV002530806	SCV003031148	likely benign	Peutz-Jeghers syndrome	2022-08-05	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV002530806	SCV004816321	likely benign	Peutz-Jeghers syndrome	2023-06-15	criteria provided, single submitter	clinical testing