ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1049C>T (p.Ala350Val) (rs587782331)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131253 SCV000186215 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000131253 SCV000902914 benign Hereditary cancer-predisposing syndrome 2017-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000212642 SCV000211269 likely benign not specified 2017-11-08 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.
Invitae RCV000168415 SCV000219109 benign Hereditary nonpolyposis colon cancer 2017-12-05 criteria provided, single submitter clinical testing

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