ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1077_1276del

dbSNP: rs1553356518
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000503735 SCV000592558 pathogenic Lynch syndrome criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002524135 SCV001469557 pathogenic not provided 2019-09-12 criteria provided, single submitter clinical testing The variant results in the deletion of at least one complete exon, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data.

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