Submissions for variant NM_000251.3(MSH2):c.646-11T>C

dbSNP: rs879254124

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000657090	SCV000293580	uncertain significance	not provided	2018-04-02	criteria provided, single submitter	clinical testing	This variant is denoted MSH2 c.646-11T>C or IVS3-11T>C and consists of a T>C nucleotide substitution at the -11 position of intron 3 of the MSH2 gene. In silico analyses, which include splice predictors and evolutionary conservation, are inconsistent in their assessment as to whether or not the variant is damaging. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. This variant was not observed in large population cohorts (Lek 2016). Based on currently available evidence, it is unclear whether MSH2 c.646-11T>C is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000236134	SCV000604263	uncertain significance	not specified	2017-02-10	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000771391	SCV000903730	likely benign	Hereditary cancer-predisposing syndrome	2017-11-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002057254	SCV002394559	likely benign	Hereditary nonpolyposis colorectal neoplasms	2023-09-25	criteria provided, single submitter	clinical testing