ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1692_1693del (p.Lys565_Asn566insTer)

dbSNP: rs1553367635
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Donald Williams Parsons Laboratory, Baylor College of Medicine RCV000505645 SCV000599965 pathogenic Lynch syndrome 1 2013-01-24 no assertion criteria provided research This frameshift variant is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in this study maternally inherited in a 13-year-old female with glioblastoma and family history of colorectal, uterine, pancreatic, and breast cancers.

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