Submissions for variant NM_000179.3(MSH6):c.4062G>T (p.Leu1354=)

gnomAD frequency: 0.00002  dbSNP: rs863224335

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000219894	SCV000275180	likely benign	Hereditary cancer-predisposing syndrome	2015-04-21	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.
Counsyl	RCV000409551	SCV000488350	likely benign	Lynch syndrome 5	2016-03-03	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000219894	SCV000690437	likely benign	Hereditary cancer-predisposing syndrome	2017-08-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000630392	SCV000751348	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-16	criteria provided, single submitter	clinical testing
GeneDx	RCV001668388	SCV001887965	likely benign	not provided	2018-10-15	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001668388	SCV002774198	likely benign	not provided	2022-09-27	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000409551	SCV004018445	benign	Lynch syndrome 5	2023-03-27	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.