ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2006-4G>A (rs369853630)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162418 SCV000212758 likely benign Hereditary cancer-predisposing syndrome 2017-03-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Co-occurence with mutation in same gene (phase unknown),In silico models in agreement (benign)
Invitae RCV000679300 SCV000284131 likely benign not provided 2019-02-27 criteria provided, single submitter clinical testing
Counsyl RCV000409960 SCV000487812 uncertain significance Lynch syndrome I 2015-11-17 criteria provided, single submitter clinical testing
GeneDx RCV000202240 SCV000513662 likely benign not specified 2018-01-24 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.
Genetic Services Laboratory, University of Chicago RCV000202240 SCV000595837 uncertain significance not specified 2017-05-25 criteria provided, single submitter clinical testing
Color RCV000162418 SCV000684999 likely benign Hereditary cancer-predisposing syndrome 2016-03-28 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679300 SCV000806019 likely benign not provided 2017-06-01 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202240 SCV000257163 uncertain significance not specified no assertion criteria provided research

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