ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.543C>T (p.Gly181=) (rs1481129490)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000782000 SCV000920460 pathogenic Lynch syndrome 2018-10-18 reviewed by expert panel curation Variant creates de novo donor leading to a 4 bp deletion at the end of exon 6 in MLH1
Ambry Genetics RCV001024107 SCV001186066 likely pathogenic Hereditary cancer-predisposing syndrome 2018-08-27 criteria provided, single submitter clinical testing 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);RNA Studies
Color RCV001024107 SCV001344851 likely pathogenic Hereditary cancer-predisposing syndrome 2018-12-27 criteria provided, single submitter clinical testing

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