ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2239_2242AGAA[1] (p.Lys748fs) (rs267608173)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575018 SCV000674233 pathogenic Hereditary cancer-predisposing syndrome 2016-11-08 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)
Counsyl RCV000409351 SCV000488736 pathogenic Hereditary nonpolyposis colorectal cancer type 4 2016-06-01 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076848 SCV000108337 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon

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