ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2006+6G>A (rs111905775)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076839 SCV000108327 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079106 SCV000110975 benign not specified 2018-03-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130905 SCV000185814 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Color RCV000130905 SCV000292095 benign Hereditary cancer-predisposing syndrome 2014-12-10 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079106 SCV000304726 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000076839 SCV000469720 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000079106 SCV000592942 likely benign not specified 2015-01-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000079106 SCV000604895 benign not specified 2018-07-13 criteria provided, single submitter clinical testing
Invitae RCV000546054 SCV000625577 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625384 SCV000745187 benign Hereditary nonpolyposis colorectal cancer type 4 2017-05-31 criteria provided, single submitter clinical testing
Counsyl RCV000625384 SCV000785289 benign Hereditary nonpolyposis colorectal cancer type 4 2017-07-07 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000079106 SCV000257309 benign not specified no assertion criteria provided clinical testing

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