ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.705+17A>G (rs62456182)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030371 SCV000108377 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Integrated Genetics/Laboratory Corporation of America RCV000030371 SCV000053038 benign Lynch syndrome 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079110 SCV000110979 benign not specified 2013-08-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130741 SCV000185632 benign Hereditary cancer-predisposing syndrome 2014-09-30 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079110 SCV000304737 benign not specified criteria provided, single submitter clinical testing
Color RCV000130741 SCV000537328 benign Hereditary cancer-predisposing syndrome 2015-03-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000079110 SCV000604898 benign not specified 2016-08-15 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000611694 SCV000745198 benign Hereditary nonpolyposis colorectal cancer type 4 2015-09-21 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000079110 SCV000691977 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000611694 SCV000734567 benign Hereditary nonpolyposis colorectal cancer type 4 no assertion criteria provided clinical testing

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