Submissions for variant NM_000455.5(STK11):c.663G>T (p.Pro221=)

gnomAD frequency: 0.00001  dbSNP: rs587780720

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000420719	SCV000520399	likely benign	not specified	2015-10-22	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	RCV000775654	SCV000910044	likely benign	Hereditary cancer-predisposing syndrome	2018-04-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000775654	SCV001187684	likely benign	Hereditary cancer-predisposing syndrome	2015-12-07	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001494800	SCV001699465	likely benign	Peutz-Jeghers syndrome	2022-07-25	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV001494800	SCV004818882	likely benign	Peutz-Jeghers syndrome	2023-09-18	criteria provided, single submitter	clinical testing