ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.-9G>C (rs547444746)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410517 SCV000488465 uncertain significance Lynch syndrome I 2016-04-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732070 SCV000859965 uncertain significance not provided 2018-03-21 criteria provided, single submitter clinical testing
GeneDx RCV000160647 SCV000211249 benign not specified 2014-08-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000732070 SCV000889446 uncertain significance not provided 2018-05-04 criteria provided, single submitter clinical testing

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