Submissions for variant NM_000455.5(STK11):c.957A>G (p.Pro319=)

gnomAD frequency: 0.00001  dbSNP: rs755126393

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000233618	SCV000284883	likely benign	Peutz-Jeghers syndrome	2025-01-06	criteria provided, single submitter	clinical testing
Counsyl	RCV000233618	SCV000784911	likely benign	Peutz-Jeghers syndrome	2017-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000833672	SCV000975436	likely benign	not provided	2018-04-24	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	RCV001019503	SCV001180871	likely benign	Hereditary cancer-predisposing syndrome	2019-02-13	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.
Genome-Nilou Lab	RCV000233618	SCV002057324	uncertain significance	Peutz-Jeghers syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002469083	SCV002766043	likely benign	not specified	2022-11-22	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000233618	SCV004017912	benign	Peutz-Jeghers syndrome	2023-04-12	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
Color Diagnostics, LLC DBA Color Health	RCV001019503	SCV004362410	likely benign	Hereditary cancer-predisposing syndrome	2020-06-22	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000233618	SCV004818944	likely benign	Peutz-Jeghers syndrome	2023-06-08	criteria provided, single submitter	clinical testing