Submissions for variant NM_000179.3(MSH6):c.3228C>T (p.Arg1076=)

dbSNP: rs786203698

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000167118	SCV000217948	likely benign	Hereditary cancer-predisposing syndrome	2014-12-04	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.
Color Diagnostics, LLC DBA Color Health	RCV000167118	SCV000908412	likely benign	Hereditary cancer-predisposing syndrome	2018-01-11	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002492674	SCV002802498	likely benign	Endometrial carcinoma; Lynch syndrome 5; Mismatch repair cancer syndrome 3	2022-04-01	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003995562	SCV004835011	likely benign	Lynch syndrome	2023-03-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV005089835	SCV005786633	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-07-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535133	SCV004711840	likely benign	MSH6-related disorder	2021-11-19	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).