ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.222T>C (p.Asp74=) (rs755073786)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001078801 SCV000284053 likely benign Hereditary nonpolyposis colorectal neoplasms 2020-08-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000679274 SCV000341630 uncertain significance not provided 2016-05-26 criteria provided, single submitter clinical testing
GeneDx RCV000265176 SCV000521711 likely benign not specified 2015-12-01 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.
PreventionGenetics,PreventionGenetics RCV000679274 SCV000805968 likely benign not provided 2017-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014824 SCV001175583 likely benign Hereditary cancer-predisposing syndrome 2018-09-27 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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