ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) (rs35001569)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132423 SCV000187516 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174992 SCV000226408 likely benign not specified 2014-09-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000174992 SCV000539633 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: 1 report in HGMD; ExAC: 0.5% (358/66740) European chromosomes
Invitae RCV001083570 SCV000555963 benign Hereditary nonpolyposis colorectal neoplasms 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000114852 SCV000575343 likely benign not provided 2016-12-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000174992 SCV000595803 likely benign not specified 2017-04-03 criteria provided, single submitter clinical testing
Color RCV000132423 SCV000689843 likely benign Hereditary cancer-predisposing syndrome 2015-01-02 criteria provided, single submitter clinical testing
Counsyl RCV000663286 SCV000786528 likely benign Lynch syndrome II 2018-05-23 criteria provided, single submitter clinical testing
Mendelics RCV000075380 SCV000838025 likely benign Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing
Mendelics RCV000663286 SCV001136425 likely benign Lynch syndrome II 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000663286 SCV001305810 likely benign 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Harris Lab, University of Minnesota RCV000114852 SCV000148747 not provided not provided no assertion provided not provided
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000174992 SCV000257070 uncertain significance not specified no assertion criteria provided research

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