ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3439-16C>T (rs192614006)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000581058 SCV000685404 benign Hereditary cancer-predisposing syndrome 2014-12-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000606483 SCV000744300 benign Hereditary nonpolyposis colorectal cancer type 5 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000078314 SCV000592644 benign not specified criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000606483 SCV000734220 benign Hereditary nonpolyposis colorectal cancer type 5 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078314 SCV000110158 benign not specified 2013-10-24 criteria provided, single submitter clinical testing
GeneDx RCV000078314 SCV000170362 benign not specified 2013-11-04 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.
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074857 SCV000108069 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability <0.001
Invitae RCV000074857 SCV000261909 benign Lynch syndrome 2016-03-29 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000078314 SCV000257253 likely benign not specified no assertion criteria provided research
PreventionGenetics RCV000078314 SCV000805891 benign not specified 2017-07-11 criteria provided, single submitter clinical testing

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