ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.2107G>A (p.Glu703Lys) (rs747727493)

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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 RCV000218150 SCV000277303 likely benign Hereditary cancer-predisposing syndrome 2015-07-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,In silico models in agreement (benign)
Mendelics RCV000708932 SCV000838030 uncertain significance Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing

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