ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.944G>T (p.Gly315Val) (rs202026056)

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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 RCV000491220 SCV000580560 benign Hereditary cancer-predisposing syndrome 2016-03-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign),Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034560 SCV000043337 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Color RCV000491220 SCV000685141 likely benign Hereditary cancer-predisposing syndrome 2018-05-23 criteria provided, single submitter clinical testing
GeneDx RCV000115550 SCV000149459 likely benign not specified 2017-12-06 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) RCV000781990 SCV000920446 likely benign Lynch syndrome 2018-12-19 reviewed by expert panel curation Multifactorial likelihood analysis posterior probability < 0.05 (0.009)
Invitae RCV000197410 SCV000254432 benign Hereditary nonpolyposis colon cancer 2017-12-04 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000115550 SCV000601496 likely benign not specified 2017-06-23 criteria provided, single submitter clinical testing

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