ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2425G>A (p.Glu809Lys) (rs202145681)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129519 SCV000184295 likely benign Hereditary cancer-predisposing syndrome 2017-12-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign),Other data supporting benign classification
Invitae RCV000206702 SCV000260613 benign Hereditary nonpolyposis colon cancer 2018-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000121564 SCV000515732 likely benign not specified 2017-10-16 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.
Color RCV000129519 SCV000685041 likely benign Hereditary cancer-predisposing syndrome 2016-05-30 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034556 SCV000043346 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
ITMI RCV000121564 SCV000085758 not provided not specified 2013-09-19 no assertion provided reference population

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