Submissions for variant NM_000251.3(MSH2):c.105C>A (p.Arg35=)

gnomAD frequency: 0.00001  dbSNP: rs775554736

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000575417	SCV000662347	likely benign	Hereditary cancer-predisposing syndrome	2017-08-14	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.
Color Diagnostics, LLC DBA Color Health	RCV000575417	SCV000689946	likely benign	Hereditary cancer-predisposing syndrome	2017-06-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000979908	SCV001127856	likely benign	Hereditary nonpolyposis colorectal neoplasms	2025-01-14	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000575417	SCV002528802	likely benign	Hereditary cancer-predisposing syndrome	2021-12-22	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV002510922	SCV002822641	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	MSH2: BP4
GeneDx	RCV002510922	SCV004169115	uncertain significance	not provided	2023-10-11	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing
All of Us Research Program, National Institutes of Health	RCV004000864	SCV004828870	likely benign	Lynch syndrome	2023-12-13	criteria provided, single submitter	clinical testing