ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.454-51T>C

gnomAD frequency: 0.03218  dbSNP: rs4647255
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075725 SCV000106736 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Vantari Genetics RCV000210805 SCV000267046 benign Hereditary cancer-predisposing syndrome 2016-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001711176 SCV001939568 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315595 SCV004015868 benign Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-07 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000202038 SCV000257101 benign not specified no assertion criteria provided research
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000202038 SCV001905930 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000202038 SCV001971933 benign not specified no assertion criteria provided clinical testing

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