Submissions for variant NM_000179.3(MSH6):c.1914T>C (p.Leu638=)

dbSNP: rs766310490

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000581476	SCV000690235	likely benign	Hereditary cancer-predisposing syndrome	2017-08-14	criteria provided, single submitter	clinical testing
Invitae	RCV000931043	SCV001076705	likely benign	Hereditary nonpolyposis colorectal neoplasms	2023-12-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000581476	SCV001174300	likely benign	Hereditary cancer-predisposing syndrome	2017-10-12	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001193126	SCV001361763	likely benign	not specified	2020-01-31	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000581476	SCV002535680	likely benign	Hereditary cancer-predisposing syndrome	2022-03-21	criteria provided, single submitter	curation
All of Us Research Program, National Institutes of Health	RCV004002344	SCV004835556	likely benign	Lynch syndrome	2023-06-08	criteria provided, single submitter	clinical testing