ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2634+2T>G (rs876660546)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219827 SCV000278068 pathogenic Hereditary cancer-predisposing syndrome 2015-09-01 criteria provided, single submitter clinical testing Functionally-validated splicing mutation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985806 SCV001134358 pathogenic not provided 2019-05-03 criteria provided, single submitter clinical testing The variant disrupts a canonical splice site, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.

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