ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.182del (p.Tyr61fs) (rs63750793)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076829 SCV000108316 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
OMIM RCV000009828 SCV000030049 pathogenic Turcot syndrome 2008-02-01 no assertion criteria provided literature only

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