ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.260+22C>G

gnomAD frequency: 0.13136  dbSNP: rs55927047
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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) RCV000074760 SCV000107970 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Color Diagnostics, LLC DBA Color Health RCV000584553 SCV000690272 benign Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000202025 SCV001158692 benign not specified 2018-07-02 criteria provided, single submitter clinical testing
GeneDx RCV001353436 SCV001863113 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315587 SCV004015974 benign Lynch syndrome 5 2023-07-07 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000202025 SCV004233648 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 31% of patients studied by a panel of primary immunodeficiencies. Number of patients: 29. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001353436 SCV005243546 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000202025 SCV000257224 benign not specified no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001353436 SCV000592565 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000202025 SCV001906305 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000202025 SCV001967743 benign not specified no assertion criteria provided clinical testing

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