ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) (rs63750449)

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Total submissions: 20
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075384 SCV000106379 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability <0.001
Ambry Genetics RCV000132375 SCV000187465 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000174993 SCV000226409 likely benign not specified 2014-09-24 criteria provided, single submitter clinical testing
Color Health, Inc RCV000132375 SCV000537392 benign Hereditary cancer-predisposing syndrome 2015-01-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000174993 SCV000539634 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: NOTE: Common haplotype with 1852A>G. ExAC: 0.5% (357/66740) European chromosomes
Genetic Services Laboratory, University of Chicago RCV000174993 SCV000595804 likely benign not specified 2017-04-03 criteria provided, single submitter clinical testing
Invitae RCV001080445 SCV000751221 benign Hereditary nonpolyposis colorectal neoplasms 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000615824 SCV001136426 benign Lynch syndrome II 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000615824 SCV001305811 uncertain significance Lynch syndrome II 2019-06-10 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000174993 SCV001470327 benign not specified 2019-11-12 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000114853 SCV001748066 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
Harris Lab, University of Minnesota RCV000114853 SCV000148748 not provided not provided no assertion provided not provided
Pathway Genomics RCV000144601 SCV000189928 likely benign Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing
CSER _CC_NCGL, University of Washington RCV000148619 SCV000190334 uncertain significance Colorectal cancer, non-polyposis 2014-06-01 no assertion criteria provided research
Mayo Clinic Laboratories, Mayo Clinic RCV000174993 SCV000257071 uncertain significance not specified no assertion criteria provided research
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000114853 SCV000592425 uncertain significance not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000615824 SCV000734270 benign Lynch syndrome II no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000114853 SCV001808365 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute RCV000174993 SCV001905771 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000114853 SCV001920845 likely benign not provided no assertion criteria provided clinical testing

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