ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.573C>T (p.Leu191=) (rs1800151)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000202058 SCV000604264 benign not specified 2017-04-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162404 SCV000212734 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Color RCV000162404 SCV000685101 benign Hereditary cancer-predisposing syndrome 2015-04-13 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625238 SCV000744269 benign Lynch syndrome I 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000202058 SCV000592470 benign not specified criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625238 SCV000745634 benign Lynch syndrome I 2016-04-06 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000076644 SCV000430914 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076644 SCV000107679 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Invitae RCV000524415 SCV000559177 benign Hereditary nonpolyposis colon cancer 2018-01-25 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202058 SCV000257193 benign not specified no assertion criteria provided clinical testing
PreventionGenetics RCV000202058 SCV000303166 benign not specified criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000202058 SCV000601486 benign not specified 2017-03-24 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759115 SCV000888224 benign not provided 2017-03-24 criteria provided, single submitter clinical testing

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