ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1186C>G (p.Leu396Val) (rs2020908)

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Total submissions: 21
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000121576 SCV000604277 benign not specified 2016-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000157762 SCV000212712 benign Hereditary cancer-predisposing syndrome 2014-08-20 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034490 SCV000043352 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Center for Human Genetics, Inc RCV000625241 SCV000781786 likely benign Hereditary nonpolyposis colorectal cancer type 5 2016-11-01 criteria provided, single submitter clinical testing
Color RCV000157762 SCV000537391 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625241 SCV000744290 benign Hereditary nonpolyposis colorectal cancer type 5 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000121576 SCV000592581 benign not specified 2013-08-16 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000030259 SCV000296878 benign Lynch syndrome 2015-09-17 criteria provided, single submitter clinical testing
GeneDx RCV000121576 SCV000170351 benign not specified 2013-10-21 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.
Genetic Services Laboratory, University of Chicago RCV000121576 SCV000595841 benign not specified 2017-06-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625241 SCV000745648 benign Hereditary nonpolyposis colorectal cancer type 5 2016-07-11 criteria provided, single submitter clinical testing
ITMI RCV000121576 SCV000085772 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000030259 SCV000430960 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030259 SCV000052926 benign Lynch syndrome 2013-10-16 no assertion criteria provided clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030259 SCV000107841 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability <0.001
Invitae RCV000524104 SCV000262452 benign Hereditary nonpolyposis colon cancer 2018-01-24 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000121576 SCV000257209 benign not specified no assertion criteria provided clinical testing
Pathway Genomics RCV000144628 SCV000189955 benign Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing
PreventionGenetics RCV000121576 SCV000302868 benign not specified criteria provided, single submitter clinical testing
True Health Diagnostics RCV000157762 SCV000788042 benign Hereditary cancer-predisposing syndrome 2018-02-20 no assertion criteria provided clinical testing
Vantari Genetics RCV000157762 SCV000267054 benign Hereditary cancer-predisposing syndrome 2015-12-03 criteria provided, single submitter clinical testing

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