ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1170T>C (p.Asp390=) (rs55882234)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165797 SCV000216544 likely benign Hereditary cancer-predisposing syndrome 2014-09-03 criteria provided, single submitter clinical testing
Invitae RCV000228538 SCV000283705 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Color RCV000165797 SCV000685174 likely benign Hereditary cancer-predisposing syndrome 2015-10-09 criteria provided, single submitter clinical testing
GeneDx RCV000602595 SCV000732699 likely benign not specified 2017-06-13 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.
Counsyl RCV000662624 SCV000785290 likely benign Hereditary nonpolyposis colorectal cancer type 5 2017-06-29 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000602595 SCV000919733 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing

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