ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.2104-22T>G

gnomAD frequency: 0.00001  dbSNP: rs267607890
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000774718 SCV000908655 likely benign Hereditary cancer-predisposing syndrome 2017-09-07 criteria provided, single submitter clinical testing
Mendelics RCV000987190 SCV001136436 likely benign Colorectal cancer, hereditary nonpolyposis, type 2 2019-05-28 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003320555 SCV004024914 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing

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