ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.984C>T (p.Ala328=) (rs4987189)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076774 SCV000107813 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability 0.001-0.049
GeneDx RCV000192476 SCV000170333 benign not specified 2014-01-24 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.
Ambry Genetics RCV000126809 SCV000212787 likely benign Hereditary cancer-predisposing syndrome 2014-06-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000192476 SCV000248075 likely benign not specified 2015-07-27 criteria provided, single submitter clinical testing
Invitae RCV000656570 SCV000252657 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000192476 SCV000303168 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000076774 SCV000430920 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000192476 SCV000592483 benign not specified criteria provided, single submitter clinical testing
Color RCV000126809 SCV000685147 benign Hereditary cancer-predisposing syndrome 2015-04-07 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000613302 SCV000744272 likely benign Lynch syndrome I 2015-09-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000192476 SCV001158687 benign not specified 2019-02-06 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000613302 SCV000734198 likely benign Lynch syndrome I no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000613302 SCV000745636 likely benign Lynch syndrome I 2015-08-21 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656570 SCV000778617 likely benign not provided 2017-12-18 no assertion criteria provided clinical testing
True Health Diagnostics RCV000126809 SCV000805271 likely benign Hereditary cancer-predisposing syndrome 2018-05-29 no assertion criteria provided clinical testing

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