ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.339G>A (p.Lys113=) (rs35898375)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000157761 SCV000212736 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000030252 SCV000212175 benign Lynch syndrome 2015-03-11 criteria provided, single submitter research
Color RCV000157761 SCV000537397 benign Hereditary cancer-predisposing syndrome 2014-12-08 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000606468 SCV000744266 benign Lynch syndrome I 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000202152 SCV000592461 benign not specified 2015-12-02 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000606468 SCV000734197 likely benign Lynch syndrome I no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000202152 SCV000110276 benign not specified 2018-03-15 criteria provided, single submitter clinical testing
GeneDx RCV000202152 SCV000170336 benign not specified 2013-10-24 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 RCV000202152 SCV000595827 likely benign not specified 2016-11-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000606468 SCV000745631 benign Lynch syndrome I 2015-11-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030252 SCV000052919 benign Lynch syndrome 2012-10-01 no assertion criteria provided clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030252 SCV000107598 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research Synonymous variant with no effect on splicing, MAF 0.01-1% & >3 MSS/MSH2 IHC normal CRC tumours. Multifactorial likelihood analysis posterior probability <0.001
Invitae RCV000524404 SCV000153878 benign Hereditary nonpolyposis colon cancer 2018-01-16 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202152 SCV000257185 benign not specified no assertion criteria provided research
PreventionGenetics RCV000202152 SCV000303164 benign not specified criteria provided, single submitter clinical testing
True Health Diagnostics RCV000157761 SCV000788036 benign Hereditary cancer-predisposing syndrome 2017-10-11 no assertion criteria provided clinical testing

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