Submissions for variant NM_000455.5(STK11):c.48G>A (p.Glu16=)

gnomAD frequency: 0.00001  dbSNP: rs969419908

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001712300	SCV000534091	likely benign	not provided	2020-01-18	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27721366)
Invitae	RCV000945242	SCV001091232	likely benign	Peutz-Jeghers syndrome	2023-03-09	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001188608	SCV001355688	likely benign	Hereditary cancer-predisposing syndrome	2019-09-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001188608	SCV002636876	likely benign	Hereditary cancer-predisposing syndrome	2022-05-01	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.
All of Us Research Program, National Institutes of Health	RCV000945242	SCV004816302	likely benign	Peutz-Jeghers syndrome	2023-05-30	criteria provided, single submitter	clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	RCV001188608	SCV005045469	likely benign	Hereditary cancer-predisposing syndrome	2024-03-19	criteria provided, single submitter	clinical testing