ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.261-14C>T (rs369366445)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000581148 SCV000690281 likely benign Hereditary cancer-predisposing syndrome 2016-10-06 criteria provided, single submitter clinical testing
GeneDx RCV000605910 SCV000729574 likely benign not specified 2017-03-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
University of Washington Department of Laboratory Medicine, University of Washington RCV000664311 SCV000788244 likely benign Lynch syndrome 2018-02-01 criteria provided, single submitter clinical testing RNA studies for MSH6:c.261-14C>T indicate normal splicing. Only full length MSH6 transcripts are detected in patient’s lymphoblast and whole blood RNA. Equally expressed MSH6 alleles are detected in whole-blood RNA.

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