Submissions for variant NM_000179.3(MSH6):c.1347G>A (p.Leu449=)

dbSNP: rs786201760

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000164216	SCV000214837	likely benign	Hereditary cancer-predisposing syndrome	2015-09-30	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	RCV000409350	SCV000487800	likely benign	Lynch syndrome 5	2015-11-17	criteria provided, single submitter	clinical testing
GeneDx	RCV001704192	SCV000528766	likely benign	not provided	2019-07-30	criteria provided, single submitter	clinical testing
Invitae	RCV000534629	SCV000624641	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-25	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000164216	SCV000685188	likely benign	Hereditary cancer-predisposing syndrome	2017-02-14	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000418542	SCV001737767	likely benign	not specified	2021-06-05	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000409350	SCV004018913	benign	Lynch syndrome 5	2023-03-28	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.
All of Us Research Program, National Institutes of Health	RCV003995325	SCV004841306	likely benign	Lynch syndrome	2023-08-15	criteria provided, single submitter	clinical testing