ClinVar Miner

Submissions for variant NM_001167618.2(MLH1):c.-136del (rs63751653)

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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) RCV000075776 SCV000106785 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000075776 SCV000592363 pathogenic Lynch syndrome criteria provided, single submitter clinical testing
Ambry Genetics RCV000570709 SCV000669516 pathogenic Hereditary cancer-predisposing syndrome 2018-09-20 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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