ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1410-54C>T

gnomAD frequency: 0.04850  dbSNP: rs7633154
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075196 SCV000106191 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
PreventionGenetics, part of Exact Sciences RCV000247033 SCV000303144 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001689614 SCV001156744 benign not provided 2023-06-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001190168 SCV001357594 benign Hereditary cancer-predisposing syndrome 2018-12-20 criteria provided, single submitter clinical testing
GeneDx RCV001689614 SCV001914814 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315591 SCV004015865 benign Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001689614 SCV005238087 benign not provided criteria provided, single submitter not provided
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV005234967 SCV005880836 benign Muir-Torré syndrome 2025-02-01 criteria provided, single submitter clinical testing

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