ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3173-101G>C

gnomAD frequency: 0.78513  dbSNP: rs2072447
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074810 SCV000108022 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
GeneDx RCV001618242 SCV001844233 benign not provided 2018-06-21 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000202182 SCV004233189 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 64% of patients studied by a panel of primary immunodeficiencies. Number of patients: 61. Only high quality variants are reported.
Mayo Clinic Laboratories, Mayo Clinic RCV000202182 SCV000257237 benign not specified no assertion criteria provided research
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000202182 SCV001906059 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000202182 SCV001954775 benign not specified no assertion criteria provided clinical testing

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