Submissions for variant NM_000251.3(MSH2):c.375T>G (p.Pro125=)

gnomAD frequency: 0.00001  dbSNP: rs1427268231

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000937407	SCV001083192	likely benign	Hereditary nonpolyposis colorectal neoplasms	2023-12-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001002458	SCV001160400	likely benign	not specified	2019-04-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001021072	SCV001182642	likely benign	Hereditary cancer-predisposing syndrome	2018-12-05	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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	RCV001021072	SCV001339657	likely benign	Hereditary cancer-predisposing syndrome	2018-11-27	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001002458	SCV001437418	likely benign	not specified	2020-09-11	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001284652	SCV001470551	likely benign	not provided	2019-12-20	criteria provided, single submitter	clinical testing
GeneDx	RCV001284652	SCV001780242	likely benign	not provided	2018-12-14	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001021072	SCV002534514	likely benign	Hereditary cancer-predisposing syndrome	2021-08-25	criteria provided, single submitter	curation