Submissions for variant NM_000251.3(MSH2):c.6G>T (p.Ala2=)

dbSNP: rs368270856

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	RCV000076685	SCV000107720	likely benign	Lynch syndrome	2013-09-05	reviewed by expert panel	research	Multifactorial likelihood analysis posterior probability 0.001-0.049
Invitae	RCV000524418	SCV000166285	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000212575	SCV000211250	benign	not specified	2014-07-21	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV000160648	SCV000213039	likely benign	Hereditary cancer-predisposing syndrome	2015-02-10	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.
Counsyl	RCV000662507	SCV000785036	likely benign	Lynch syndrome 1	2017-03-24	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000160648	SCV000911463	likely benign	Hereditary cancer-predisposing syndrome	2017-10-23	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001800377	SCV002046402	likely benign	not provided	2022-11-11	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000212575	SCV002051165	likely benign	not specified	2021-12-16	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000160648	SCV002534554	likely benign	Hereditary cancer-predisposing syndrome	2021-04-19	criteria provided, single submitter	curation
Myriad Genetics, Inc.	RCV000662507	SCV004018377	benign	Lynch syndrome 1	2023-03-22	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
All of Us Research Program, National Institutes of Health	RCV000076685	SCV004826183	likely benign	Lynch syndrome	2024-02-05	criteria provided, single submitter	clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	RCV000160648	SCV005045468	likely benign	Hereditary cancer-predisposing syndrome	2024-03-19	criteria provided, single submitter	clinical testing