ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1449G>T (p.Val483=) (rs35590297)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000679214 SCV000166209 benign not provided 2019-03-03 criteria provided, single submitter clinical testing
GeneDx RCV000202140 SCV000170353 benign not specified 2014-02-25 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.
Ambry Genetics RCV000126826 SCV000213008 likely benign Hereditary cancer-predisposing syndrome 2014-08-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000202140 SCV000601507 likely benign not specified 2016-12-30 criteria provided, single submitter clinical testing
Color RCV000126826 SCV000685194 likely benign Hereditary cancer-predisposing syndrome 2015-06-15 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000600196 SCV000744291 likely benign Hereditary nonpolyposis colorectal cancer type 5 2017-06-28 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679214 SCV000805843 likely benign not provided 2017-11-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679214 SCV000888239 likely benign not provided 2018-05-18 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202140 SCV000257211 likely benign not specified no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000600196 SCV000734213 likely benign Hereditary nonpolyposis colorectal cancer type 5 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000600196 SCV000745649 likely benign Hereditary nonpolyposis colorectal cancer type 5 2016-09-05 no assertion criteria provided clinical testing
True Health Diagnostics RCV000126826 SCV000886688 likely benign Hereditary cancer-predisposing syndrome 2018-08-03 no assertion criteria provided clinical testing

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