ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3802-40C>G (rs3136367)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625245 SCV000744302 benign Hereditary nonpolyposis colorectal cancer type 5 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000202099 SCV000592656 benign not specified criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030272 SCV000052939 benign Lynch syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030272 SCV000108147 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202099 SCV000257282 benign not specified no assertion criteria provided research

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