ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.545+43C>G

gnomAD frequency: 0.00007  dbSNP: rs267607761
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075750 SCV000106758 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability 0.001-0.049
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002465503 SCV002760276 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing

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