ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2940A>G (p.Glu980=) (rs730881818)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491957 SCV000580204 likely benign Hereditary cancer-predisposing syndrome 2014-08-13 criteria provided, single submitter clinical testing
Color RCV000491957 SCV000685334 likely benign Hereditary cancer-predisposing syndrome 2016-12-06 criteria provided, single submitter clinical testing
GeneDx RCV000160724 SCV000211358 benign not specified 2014-08-12 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.
Invitae RCV000204652 SCV000259989 likely benign Hereditary nonpolyposis colon cancer 2017-12-21 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679230 SCV000805874 likely benign not provided 2017-03-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000160724 SCV000601548 likely benign not specified 2016-12-21 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000491957 SCV000805273 likely benign Hereditary cancer-predisposing syndrome 2018-04-09 no assertion criteria provided clinical testing

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