Submissions for variant NM_000455.5(STK11):c.648C>T (p.Ser216=)

gnomAD frequency: 0.00001  dbSNP: rs376083300

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000162592	SCV000213010	likely benign	Hereditary cancer-predisposing syndrome	2015-11-06	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	RCV000234584	SCV000284872	likely benign	Peutz-Jeghers syndrome	2023-12-08	criteria provided, single submitter	clinical testing
GeneDx	RCV001697057	SCV000527844	likely benign	not provided	2018-11-19	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25303977)
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000420049	SCV000602235	likely benign	not specified	2017-05-18	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000162592	SCV001343320	likely benign	Hereditary cancer-predisposing syndrome	2019-11-06	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000234584	SCV004816399	likely benign	Peutz-Jeghers syndrome	2023-12-13	criteria provided, single submitter	clinical testing