ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.117-43_117-39del

dbSNP: rs587778895
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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) RCV000075137 SCV000106135 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research Intronic substitution with no associated splicing aberration, tested with NMD inhibitors.
GeneDx RCV001534925 SCV001751894 likely benign not provided 2019-11-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25871441, 18561205, 12070261)
Invitae RCV002055076 SCV002415925 likely benign Hereditary nonpolyposis colorectal neoplasms 2022-10-24 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257399 SCV002528631 likely benign Hereditary cancer-predisposing syndrome 2020-08-06 criteria provided, single submitter curation

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