ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.51C>T (p.Val17=) (rs397515879)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561158 SCV000673890 likely benign Hereditary cancer-predisposing syndrome 2016-12-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000561158 SCV000690115 likely benign Hereditary cancer-predisposing syndrome 2017-10-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035362 SCV000059010 likely benign not specified 2011-07-22 criteria provided, single submitter clinical testing Val17Val in exon 1 of MSH2: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located near a splice junction.

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