Submissions for variant NM_000179.3(MSH6):c.1623C>T (p.Ser541=)

gnomAD frequency: 0.00001  dbSNP: rs777678406

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000458160	SCV000561458	likely benign	Hereditary nonpolyposis colorectal neoplasms	2023-11-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000574333	SCV000669926	likely benign	Hereditary cancer-predisposing syndrome	2015-11-14	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.
Mendelics	RCV000986716	SCV001135808	likely benign	Lynch syndrome 5	2019-05-28	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000574333	SCV001359163	likely benign	Hereditary cancer-predisposing syndrome	2018-10-30	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004002158	SCV004839617	likely benign	Lynch syndrome	2023-08-15	criteria provided, single submitter	clinical testing