ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2245G>A (p.Glu749Lys) (rs63751477)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000218283 SCV000274701 likely pathogenic Hereditary cancer-predisposing syndrome 2016-09-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Deficient protein function in appropriate functional assay(s),Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Other data supporting pathogenic classification
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076444 SCV000107472 likely pathogenic Lynch syndrome 2019-06-21 reviewed by expert panel curation Abrogated function & 2 MSI-H tumours

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