ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.790+10A>G (rs182733777)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075846 SCV000106860 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability <0.001
GeneDx RCV000201983 SCV000170292 benign not specified 2013-12-06 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 RCV000129433 SCV000184203 benign Hereditary cancer-predisposing syndrome 2015-09-20 criteria provided, single submitter clinical testing Co-occurence with mutation in same gene (phase unknown);Other data supporting benign classification;In silico models in agreement (benign)
Invitae RCV000524315 SCV000252651 benign Hereditary nonpolyposis colon cancer 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000201983 SCV000303153 benign not specified criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000201983 SCV000592375 likely benign not specified 2016-08-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000201983 SCV000595801 likely benign not specified 2016-06-21 criteria provided, single submitter clinical testing
Color RCV000129433 SCV000684867 benign Hereditary cancer-predisposing syndrome 2014-12-04 criteria provided, single submitter clinical testing
Mendelics RCV000602167 SCV001136385 likely benign Lynch syndrome II 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000201983 SCV001156599 benign not specified 2018-08-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000602167 SCV001305705 uncertain significance Lynch syndrome II 2018-03-13 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000201983 SCV000257115 likely benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000602167 SCV000734265 benign Lynch syndrome II no assertion criteria provided clinical testing

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