ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3802-40C>G

gnomAD frequency: 0.73398  dbSNP: rs3136367
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Total submissions: 11
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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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625245 SCV000744302 benign Lynch syndrome 5 2015-09-21 criteria provided, single submitter clinical testing
GeneDx RCV001353879 SCV001856776 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000625245 SCV004015972 benign Lynch syndrome 5 2023-07-07 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000202099 SCV004232965 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 88% of patients studied by a panel of primary immunodeficiencies. Number of patients: 84. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001353879 SCV005243573 benign not provided criteria provided, single submitter not provided
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
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000202099 SCV001906312 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000202099 SCV001952802 benign not specified no assertion criteria provided clinical testing

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