Submissions for variant NM_000455.5(STK11):c.598-12G>A

dbSNP: rs587781578

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000129614	SCV000184405	likely benign	Hereditary cancer-predisposing syndrome	2013-08-29	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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	RCV000601362	SCV000726310	likely benign	not specified	2017-12-28	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.
Invitae	RCV002055843	SCV002372908	likely benign	Peutz-Jeghers syndrome	2024-01-07	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000129614	SCV004362394	likely benign	Hereditary cancer-predisposing syndrome	2022-08-22	criteria provided, single submitter	clinical testing