Submissions for variant NM_000179.3(MSH6):c.3015A>G (p.Arg1005=)

gnomAD frequency: 0.00001  dbSNP: rs990650403

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001721359	SCV000530882	likely benign	not provided	2021-09-20	criteria provided, single submitter	clinical testing
Invitae	RCV000466030	SCV000551166	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000574172	SCV000664862	likely benign	Hereditary cancer-predisposing syndrome	2015-04-20	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	RCV000574172	SCV000690309	likely benign	Hereditary cancer-predisposing syndrome	2016-07-18	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000425690	SCV001821350	likely benign	not specified	2021-08-23	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000574172	SCV002535783	likely benign	Hereditary cancer-predisposing syndrome	2020-10-13	criteria provided, single submitter	curation
All of Us Research Program, National Institutes of Health	RCV004000498	SCV004834478	likely benign	Lynch syndrome	2023-12-13	criteria provided, single submitter	clinical testing