ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1039-2329_1409+827del

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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) RCV000075089 SCV000106080 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Large deletion
OMIM RCV002468564 SCV000038895 pathogenic Muir-Torré syndrome 1996-09-01 no assertion criteria provided literature only
GeneReviews RCV001804810 SCV002054058 not provided Lynch syndrome 1 no assertion provided literature only

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