ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3416G>T (p.Gly1139Val) (rs1316409501)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000499888 SCV000592639 likely pathogenic Lynch syndrome 2013-06-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563961 SCV000673982 likely pathogenic Hereditary cancer-predisposing syndrome 2018-05-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Well-characterized mutation at same position,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

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