ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.*17G>C (rs556089649)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755366 SCV000604889 benign not provided 2017-06-19 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000608685 SCV000745182 likely benign Hereditary nonpolyposis colorectal cancer type 4 2017-05-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000608685 SCV000734558 benign Hereditary nonpolyposis colorectal cancer type 4 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174852 SCV000226233 benign not specified 2014-06-24 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076782 SCV000108270 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
PreventionGenetics RCV000174852 SCV000304715 benign not specified criteria provided, single submitter clinical testing

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