Submissions for variant NM_000179.3(MSH6):c.2850C>T (p.Ser950=)

gnomAD frequency: 0.00001  dbSNP: rs571394629

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000222802	SCV000274883	likely benign	Hereditary cancer-predisposing syndrome	2015-03-25	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001078908	SCV000751228	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-07-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000679228	SCV000805872	likely benign	not provided	2017-07-06	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000222802	SCV001355089	likely benign	Hereditary cancer-predisposing syndrome	2018-11-20	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316211	SCV004016011	likely benign	Lynch syndrome 5	2023-07-07	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV005396714	SCV006053015	likely benign	Endometrial carcinoma; Lynch syndrome 5; Mismatch repair cancer syndrome 3	2024-03-21	criteria provided, single submitter	clinical testing