ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.794G>C (p.Arg265Pro) (rs63751448)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000680199 SCV000807663 likely pathogenic Lynch syndrome I 2018-06-13 reviewed by expert panel curation Multifactorial likelihood analysis posterior probability > 0.95 (0.969)
Ambry Genetics RCV000567811 SCV000673828 likely pathogenic Hereditary cancer-predisposing syndrome 2019-10-10 criteria provided, single submitter clinical testing Other strong data supporting pathogenic classification;Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Rarity in general population databases (dbsnp, esp, 1000 genomes)

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