Submissions for variant NM_000455.5(STK11):c.441T>C (p.Arg147=)

gnomAD frequency: 0.00001  dbSNP: rs786201456

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163682	SCV000214256	likely benign	Hereditary cancer-predisposing syndrome	2014-12-16	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.
Color Diagnostics, LLC DBA Color Health	RCV000163682	SCV000691501	likely benign	Hereditary cancer-predisposing syndrome	2017-09-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000613634	SCV000719946	likely benign	not specified	2017-05-26	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000613634	SCV000918284	likely benign	not specified	2019-08-29	criteria provided, single submitter	clinical testing
Invitae	RCV001499204	SCV001703962	likely benign	Peutz-Jeghers syndrome	2024-01-28	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV001499204	SCV004816360	likely benign	Peutz-Jeghers syndrome	2023-04-27	criteria provided, single submitter	clinical testing