Submissions for variant NM_000455.5(STK11):c.1109-3C>T

gnomAD frequency: 0.00004  dbSNP: rs864622219

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000203722	SCV000259746	likely benign	Peutz-Jeghers syndrome	2023-12-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000564888	SCV000664308	likely benign	Hereditary cancer-predisposing syndrome	2021-02-19	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.
GeneDx	RCV000616401	SCV000732492	likely benign	not specified	2017-12-26	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.
Color Diagnostics, LLC DBA Color Health	RCV000564888	SCV000912131	likely benign	Hereditary cancer-predisposing syndrome	2023-04-25	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001284238	SCV001469909	uncertain significance	not provided	2020-06-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000203722	SCV002057313	uncertain significance	Peutz-Jeghers syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000564888	SCV002531635	uncertain significance	Hereditary cancer-predisposing syndrome	2021-11-22	criteria provided, single submitter	curation
All of Us Research Program, National Institutes of Health	RCV000203722	SCV004831813	likely benign	Peutz-Jeghers syndrome	2023-11-02	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001284238	SCV001740687	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001284238	SCV001960014	likely benign	not provided		no assertion criteria provided	clinical testing