ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.505A>G (p.Ile169Val) (rs63750716)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000115535 SCV000183948 likely benign Hereditary cancer-predisposing syndrome 2017-11-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification,Co-occurence with mutation in same gene (phase unknown),Does not segregate with disease in family study (genes with incomplete penetrance)
Center for Human Genetics, Inc RCV000659879 SCV000781770 uncertain significance Lynch syndrome I 2016-11-01 criteria provided, single submitter clinical testing
Color RCV000115535 SCV000537440 likely benign Hereditary cancer-predisposing syndrome 2015-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000212588 SCV000149444 likely benign not specified 2017-09-05 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) RCV000076619 SCV000107654 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability 0.001-0.049
Invitae RCV000524413 SCV000166283 benign Hereditary nonpolyposis colon cancer 2017-12-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212588 SCV000601482 benign not specified 2017-06-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759836 SCV000889441 benign not provided 2017-06-22 criteria provided, single submitter clinical testing

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