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
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030272 SCV000108147 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030272 SCV000052939 benign Lynch syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
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
Mayo Clinic Laboratories, Mayo Clinic RCV000202099 SCV000257282 benign not specified no assertion criteria provided research
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001353879 SCV000592656 uncertain significance not provided no assertion criteria provided clinical testing

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