ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.453+79A>G

gnomAD frequency: 0.41512  dbSNP: rs4234259
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075716 SCV000106721 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
GeneDx RCV001711131 SCV001939566 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315594 SCV004015860 benign Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-07 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000202249 SCV000257100 benign not specified no assertion criteria provided research

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