ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.381-41A>G

gnomAD frequency: 0.01794  dbSNP: rs4647245
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030224 SCV000106689 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030224 SCV000052891 benign Lynch syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
GeneDx RCV001636608 SCV001850512 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002267801 SCV002552426 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315512 SCV004015879 benign Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-07 criteria provided, single submitter clinical testing

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