ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1737A>G (p.Lys579=) (rs61756467)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000126818 SCV000212694 likely benign Hereditary cancer-predisposing syndrome 2014-06-27 criteria provided, single submitter clinical testing
Color RCV000126818 SCV000537405 benign Hereditary cancer-predisposing syndrome 2015-04-22 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625240 SCV000744277 likely benign Lynch syndrome I 2017-06-28 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000194267 SCV000592518 benign not specified 2012-11-12 criteria provided, single submitter clinical testing
GeneDx RCV000194267 SCV000170344 benign not specified 2013-12-12 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.
Genetic Services Laboratory, University of Chicago RCV000194267 SCV000248074 likely benign not specified 2015-07-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625240 SCV000745642 likely benign Lynch syndrome I 2015-08-07 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030244 SCV000052911 benign Lynch syndrome 2015-02-17 no assertion criteria provided clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030244 SCV000107281 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research Synonymous substitution with no effect on splicing, tested with an NMD inhibitor. Multifactorial likelihood analysis posterior probability 0.001-0.049
Invitae RCV000524357 SCV000252654 benign Hereditary nonpolyposis colon cancer 2018-01-11 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000194267 SCV000257150 likely benign not specified no assertion criteria provided research
PreventionGenetics RCV000194267 SCV000303160 likely benign not specified criteria provided, single submitter clinical testing
PreventionGenetics RCV000679296 SCV000806010 likely benign not provided 2016-10-03 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000126818 SCV000805267 likely benign Hereditary cancer-predisposing syndrome 2018-04-30 no assertion criteria provided clinical testing

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