ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.646-11T>C (rs879254124)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000236134 SCV000604263 uncertain significance not specified 2017-02-10 criteria provided, single submitter clinical testing
Color RCV000771391 SCV000903730 likely benign Hereditary cancer-predisposing syndrome 2017-11-01 criteria provided, single submitter clinical testing
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.

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