ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2007-7C>T (rs55954143)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000153747 SCV000604894 benign not specified 2016-08-15 criteria provided, single submitter clinical testing
Counsyl RCV000625383 SCV000785198 benign Hereditary nonpolyposis colorectal cancer type 4 2017-06-13 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625383 SCV000745186 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 RCV000153747 SCV000592943 likely benign not specified 2015-01-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153747 SCV000203314 benign not specified 2018-03-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000030366 SCV000469719 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030366 SCV000053033 benign Lynch syndrome 2013-12-27 no assertion criteria provided clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030366 SCV000108331 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Invitae RCV000030366 SCV000252714 benign Lynch syndrome 2017-01-30 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000153747 SCV000691963 benign not specified no assertion criteria provided clinical testing
PreventionGenetics RCV000153747 SCV000304728 benign not specified criteria provided, single submitter clinical testing

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