Submissions for variant NM_000455.5(STK11):c.735-6_735-2del

dbSNP: rs759090799

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000412399	SCV000254556	likely benign	Peutz-Jeghers syndrome	2023-12-24	criteria provided, single submitter	clinical testing
Counsyl	RCV000412399	SCV000487811	uncertain significance	Peutz-Jeghers syndrome	2015-11-18	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000579483	SCV000686684	likely benign	Hereditary cancer-predisposing syndrome	2016-07-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000579483	SCV001188675	benign	Hereditary cancer-predisposing syndrome	2022-07-20	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
GeneDx	RCV001706620	SCV001907131	likely benign	not provided	2018-06-26	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000412399	SCV002057279	uncertain significance	Peutz-Jeghers syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000579483	SCV002526930	likely benign	Hereditary cancer-predisposing syndrome	2021-11-27	criteria provided, single submitter	curation
Myriad Genetics, Inc.	RCV000412399	SCV004017941	likely benign	Peutz-Jeghers syndrome	2023-04-12	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.