ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2986T>C (p.Leu996=)

dbSNP: rs876658605
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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 RCV000215558 SCV000274085 likely benign Hereditary cancer-predisposing syndrome 2015-02-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000535154 SCV000624809 likely benign Hereditary nonpolyposis colorectal neoplasms 2021-05-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000215558 SCV000685344 likely benign Hereditary cancer-predisposing syndrome 2017-05-22 criteria provided, single submitter clinical testing
GeneDx RCV000606373 SCV000719009 likely benign not specified 2017-04-26 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000606373 SCV001361711 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000606373 SCV002064699 uncertain significance not specified 2019-07-24 criteria provided, single submitter clinical testing

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