Submissions for variant NM_000179.3(MSH6):c.2403G>T (p.Val801=)

dbSNP: rs1572727035

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001190690	SCV001358258	likely benign	Hereditary cancer-predisposing syndrome	2018-11-26	criteria provided, single submitter	clinical testing
Invitae	RCV001448367	SCV001651456	likely benign	Hereditary nonpolyposis colorectal neoplasms	2022-05-27	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002271599	SCV002555839	likely benign	not specified	2022-06-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001190690	SCV002738548	likely benign	Hereditary cancer-predisposing syndrome	2021-01-29	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	RCV001190690	SCV004228162	likely benign	Hereditary cancer-predisposing syndrome	2023-10-17	criteria provided, single submitter	clinical testing