ClinVar Miner

Submissions for variant NM_000535.6(PMS2):c.736_741delCCCCCTins11 (p.?)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130523 SCV000185392 pathogenic Hereditary cancer-predisposing syndrome 2015-09-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other acmg-defined mutation (i.e. initiation codon or gross deletion)
University of Washington Department of Laboratory Medicine, University of Washington RCV000210206 SCV000266120 pathogenic Lynch syndrome 2015-11-20 criteria provided, single submitter clinical testing

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