ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2239C>T (p.Leu747=) (rs63751305)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000656571 SCV000166217 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing
GeneDx RCV000212662 SCV000170355 benign not specified 2014-05-12 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.
Ambry Genetics RCV000126828 SCV000213307 likely benign Hereditary cancer-predisposing syndrome 2015-01-12 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000212662 SCV000592601 likely benign not specified 2015-07-09 criteria provided, single submitter clinical testing
Color RCV000126828 SCV000690249 likely benign Hereditary cancer-predisposing syndrome 2015-07-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000656571 SCV000805858 likely benign not provided 2017-09-19 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656571 SCV000778619 likely benign not provided 2017-11-16 no assertion criteria provided clinical testing

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