ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.277A>G (p.Ser93Gly) (rs41295282)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000115477 SCV000217328 likely benign Hereditary cancer-predisposing syndrome 2018-02-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Intact protein function observed in appropriate functional assay(s),Other data supporting benign classification,Structural Evidence
Color RCV000115477 SCV000910785 likely benign Hereditary cancer-predisposing syndrome 2015-01-19 criteria provided, single submitter clinical testing
Counsyl RCV000409754 SCV000487952 uncertain significance Lynch syndrome II 2015-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000212516 SCV000149386 likely benign not specified 2017-10-25 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.
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075612 SCV000106610 uncertain significance Lynch syndrome 2013-09-05 reviewed by expert panel research Insufficient evidence
Invitae RCV000524285 SCV000252648 benign Hereditary nonpolyposis colon cancer 2017-12-23 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000212516 SCV000691843 likely benign not specified no assertion criteria provided clinical testing

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