ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.2224C>T (p.Gln742Ter) (rs587778992)

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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) RCV000075580 SCV000106578 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon within functional domain in last exon
Ambry Genetics RCV000574085 SCV000664836 pathogenic Hereditary cancer-predisposing syndrome 2016-01-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000075580 SCV000914327 pathogenic Lynch syndrome 2019-01-30 criteria provided, single submitter research

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