Submissions for variant NM_000455.5(STK11):c.747C>T (p.Thr249=)

dbSNP: rs759546076

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000539250	SCV000629140	likely benign	Peutz-Jeghers syndrome	2024-01-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000573783	SCV000664335	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.
Color Diagnostics, LLC DBA Color Health	RCV000573783	SCV000691544	likely benign	Hereditary cancer-predisposing syndrome	2017-04-06	criteria provided, single submitter	clinical testing
GeneDx	RCV001662535	SCV001881176	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000539250	SCV002057433	likely benign	Peutz-Jeghers syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002476113	SCV002795157	likely benign	Carcinoma of pancreas; Peutz-Jeghers syndrome; Melanoma, cutaneous malignant, susceptibility to, 1; Germ cell tumor of testis	2022-01-08	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV003493627	SCV004242951	likely benign	not specified	2024-02-06	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000539250	SCV004818899	likely benign	Peutz-Jeghers syndrome	2024-02-05	criteria provided, single submitter	clinical testing