ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.790+10A>G (rs182733777)

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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 RCV000129433 SCV000184203 benign Hereditary cancer-predisposing syndrome 2015-09-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with mutation in same gene (phase unknown),Other data supporting benign classification,In silico models in agreement (benign)
Color RCV000129433 SCV000684867 benign Hereditary cancer-predisposing syndrome 2014-12-04 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000201983 SCV000592375 likely benign not specified 2016-08-04 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000602167 SCV000734265 benign Lynch syndrome II no assertion criteria provided clinical testing
GeneDx RCV000201983 SCV000170292 benign not specified 2013-12-06 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 RCV000201983 SCV000595801 likely benign not specified 2016-06-21 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075846 SCV000106860 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability <0.001
Invitae RCV000524315 SCV000252651 benign Hereditary nonpolyposis colon cancer 2018-01-22 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000201983 SCV000257115 likely benign not specified no assertion criteria provided clinical testing
PreventionGenetics RCV000201983 SCV000303153 benign not specified criteria provided, single submitter clinical testing

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