ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.453+25A>G

gnomAD frequency: 0.00414  dbSNP: rs4647246
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030225 SCV000106717 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability <0.001
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030225 SCV000052892 benign Lynch syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
GeneDx RCV000829444 SCV000971174 likely benign not provided 2018-06-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000202105 SCV002552428 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315513 SCV004015864 benign Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-07 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000202105 SCV000257099 likely benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000202105 SCV001957106 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000202105 SCV001964161 benign not specified no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000202105 SCV001977618 benign not specified no assertion criteria provided clinical testing

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