ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.-9G>A (rs547444746)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000580503 SCV000684891 likely benign Hereditary cancer-predisposing syndrome 2017-06-02 criteria provided, single submitter clinical testing
GeneDx RCV000444608 SCV000520742 likely benign not specified 2015-11-11 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.
Integrated Genetics/Laboratory Corporation of America RCV000586531 SCV000696299 uncertain significance not provided 2016-04-11 criteria provided, single submitter clinical testing Variant summary: The variant of interest is located at a conserved position in the 5' UTR region of MSH2, which could influence transcription, however, this has not been functionally assessed neither has it been assessed via in silico programs. The variant of interest was not observed in controls (ExAC, 1000 Gs or ESP), nor has it been, to our knowledge, reported in affected individuals via publications and/or reputable clinical laboratories/databases. Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.

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