ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1959G>T (p.Leu653=) (rs1800146)

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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 RCV000126778 SCV000212672 benign Hereditary cancer-predisposing syndrome 2016-10-25 criteria provided, single submitter clinical testing
Color RCV000126778 SCV000292111 benign Hereditary cancer-predisposing syndrome 2014-11-26 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000610651 SCV000744682 benign Lynch syndrome II 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000153507 SCV000592429 benign not specified 2012-12-19 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000610651 SCV000734272 likely benign Lynch syndrome II no assertion criteria provided clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000030219 SCV000257650 benign Lynch syndrome 2015-07-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153507 SCV000203027 benign not specified 2014-03-26 criteria provided, single submitter clinical testing
GeneDx RCV000153507 SCV000170299 benign not specified 2013-10-25 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.
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000610651 SCV000745681 benign Lynch syndrome II 2015-05-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030219 SCV000052886 benign Lynch syndrome 2013-04-18 no assertion criteria provided clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030219 SCV000106434 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research Synonymous substitution with no splicing aberration, >3 MSS CRC tumours, segregation LR <0.01 & MAF 0.01-1%
Invitae RCV000524259 SCV000153861 benign Hereditary nonpolyposis colon cancer 2018-01-13 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000153507 SCV000257075 benign not specified no assertion criteria provided clinical testing
Pathway Genomics RCV000144610 SCV000189937 benign Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing
PreventionGenetics RCV000153507 SCV000303147 benign not specified criteria provided, single submitter clinical testing
True Health Diagnostics RCV000126778 SCV000788020 likely benign Hereditary cancer-predisposing syndrome 2017-12-08 no assertion criteria provided clinical testing

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