ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1345C>T (p.Leu449=) (rs3136333)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030260 SCV000052927 benign Lynch syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
GeneDx RCV000153513 SCV000170352 benign not specified 2014-01-09 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 RCV000132062 SCV000187125 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153513 SCV000203036 benign not specified 2014-03-17 criteria provided, single submitter clinical testing
Invitae RCV000524106 SCV000260473 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Color RCV000132062 SCV000685187 benign Hereditary cancer-predisposing syndrome 2015-04-22 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000153513 SCV000805841 benign not specified 2017-01-30 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000153513 SCV000691925 benign not specified no assertion criteria provided clinical testing

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