ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1387-8G>T (rs187525243)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000126811 SCV000537404 benign Hereditary cancer-predisposing syndrome 2015-02-19 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000202101 SCV000592501 benign not specified 2013-05-27 criteria provided, single submitter clinical testing
GeneDx RCV000202101 SCV000170337 benign not specified 2013-12-12 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 RCV000202101 SCV000595828 likely benign not specified 2017-03-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625492 SCV000745639 likely benign Lynch syndrome I 2015-08-07 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030239 SCV000052906 benign Lynch syndrome 2015-02-16 no assertion criteria provided clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000625492 SCV000107164 benign Lynch syndrome I 2018-06-13 reviewed by expert panel curation Multifactorial likelihood analysis posterior probability < 0.001 (0.00017)
Invitae RCV000524341 SCV000252652 benign Hereditary nonpolyposis colon cancer 2018-01-11 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202101 SCV000257139 benign not specified no assertion criteria provided clinical testing
PreventionGenetics RCV000202101 SCV000303156 likely benign not specified criteria provided, single submitter clinical testing
PreventionGenetics RCV000679289 SCV000805997 likely benign not provided 2016-10-03 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000126811 SCV000805265 likely benign Hereditary cancer-predisposing syndrome 2018-04-30 no assertion criteria provided clinical testing
Vantari Genetics RCV000126811 SCV000267051 benign Hereditary cancer-predisposing syndrome 2015-12-28 criteria provided, single submitter clinical testing

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