ClinVar Miner

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

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Total submissions: 10
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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 2018-08-27 criteria provided, single submitter clinical testing Co-occurence with mutation in same gene (phase unknown)
Invitae RCV001083364 SCV000284131 likely benign Hereditary nonpolyposis colorectal neoplasms 2020-11-30 criteria provided, single submitter clinical testing
Counsyl RCV000409960 SCV000487812 uncertain significance Lynch syndrome I 2015-11-17 criteria provided, single submitter clinical testing
GeneDx RCV000679300 SCV000513662 likely benign not provided 2020-10-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21056691)
Genetic Services Laboratory, University of Chicago RCV000202240 SCV000595837 uncertain significance not specified 2017-05-25 criteria provided, single submitter clinical testing
Color Health, Inc 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198846 SCV001369841 benign Turcot syndrome 2018-10-19 criteria provided, single submitter clinical testing This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: PM2,BP4.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001289772 SCV001477760 likely benign none provided 2019-09-13 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000202240 SCV000257163 uncertain significance not specified no assertion criteria provided research

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