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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000079106 SCV000604895 benign not specified 2016-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130905 SCV000185814 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Color RCV000130905 SCV000292095 benign Hereditary cancer-predisposing syndrome 2014-12-10 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
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
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000079106 SCV000592942 likely benign not specified 2015-01-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079106 SCV000110975 benign not specified 2018-03-21 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
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076839 SCV000108327 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Invitae RCV000546054 SCV000625577 benign Hereditary nonpolyposis colon cancer 2017-07-10 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000079106 SCV000257309 benign not specified no assertion criteria provided clinical testing
PreventionGenetics RCV000079106 SCV000304726 benign not specified criteria provided, single submitter clinical testing

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