ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1853A>G (p.Lys618Arg) (rs63750449)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075385 SCV000106380 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research Co-occurrence in trans without CMMRD phenotype & MAF 0.01-1%
Ambry Genetics RCV000131941 SCV000186997 likely benign Hereditary cancer-predisposing syndrome 2018-12-04 criteria provided, single submitter clinical testing Co-occurence with mutation in same gene (phase unknown);Intact protein function observed in appropriate functional assay(s);In silico models in agreement (benign)
GeneDx RCV000417383 SCV000211147 likely benign not specified 2017-08-31 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 RCV001083344 SCV000284036 benign Hereditary nonpolyposis colon cancer 2019-12-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000417383 SCV000601371 likely benign not specified 2017-01-02 criteria provided, single submitter clinical testing
Color RCV000131941 SCV000684777 likely benign Hereditary cancer-predisposing syndrome 2015-08-13 criteria provided, single submitter clinical testing
Counsyl RCV000663183 SCV000786354 likely benign Lynch syndrome II 2018-04-18 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000524255 SCV001153849 likely benign not provided 2018-07-01 criteria provided, single submitter clinical testing

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