Submissions for variant NM_000455.5(STK11):c.1029C>T (p.Asp343=)

gnomAD frequency: 0.00002  dbSNP: rs1448942333

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000548957	SCV000629055	likely benign	Peutz-Jeghers syndrome	2024-01-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000565082	SCV000672340	likely benign	Hereditary cancer-predisposing syndrome	2015-12-12	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	RCV000565082	SCV000691461	likely benign	Hereditary cancer-predisposing syndrome	2017-02-12	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000548957	SCV004015569	likely benign	Peutz-Jeghers syndrome	2023-07-07	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000548957	SCV004818960	likely benign	Peutz-Jeghers syndrome	2023-08-15	criteria provided, single submitter	clinical testing