ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.2146G>A (p.Val716Met) (rs35831931)

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Total submissions: 19
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075554 SCV000106550 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability <0.001
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121366 SCV000110265 likely benign not specified 2013-01-02 criteria provided, single submitter clinical testing
GeneDx RCV000121366 SCV000149381 benign not specified 2017-07-21 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.
Invitae RCV001082159 SCV000153862 benign Hereditary nonpolyposis colorectal neoplasms 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000115472 SCV000184334 benign Hereditary cancer-predisposing syndrome 2014-08-29 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000121366 SCV000592441 benign not specified 2016-08-12 criteria provided, single submitter clinical testing
Color RCV000115472 SCV000684801 benign Hereditary cancer-predisposing syndrome 2014-12-11 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000600229 SCV000744683 benign Lynch syndrome II 2015-09-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000034545 SCV000805965 likely benign not provided 2017-10-03 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000034545 SCV000892682 likely benign not provided 2018-08-01 criteria provided, single submitter clinical testing
Mendelics RCV000600229 SCV001136438 likely benign Lynch syndrome II 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000121366 SCV001156603 benign not specified 2019-05-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000600229 SCV001307916 benign Lynch syndrome II 2019-02-11 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000034545 SCV001433782 benign not provided 2017-07-03 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034545 SCV000043330 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
ITMI RCV000121366 SCV000085548 not provided not specified 2013-09-19 no assertion provided reference population
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000121366 SCV000691867 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000600229 SCV000734273 likely benign Lynch syndrome II no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000600229 SCV000745682 benign Lynch syndrome II 2016-10-21 no assertion criteria provided clinical testing

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