ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3051_3052TC[1] (p.Leu1018fs) (rs63751407)

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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) RCV000074799 SCV000108010 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Integrated Genetics/Laboratory Corporation of America RCV000074799 SCV000052933 pathogenic Lynch syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.
OMIM RCV000009489 SCV000029707 pathogenic Hereditary nonpolyposis colorectal cancer type 5 2001-02-15 no assertion criteria provided literature only

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