ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.589-9G>T

dbSNP: rs566497442
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000581382 SCV000689900 likely benign Hereditary cancer-predisposing syndrome 2017-03-03 criteria provided, single submitter clinical testing
Invitae RCV001476996 SCV001681218 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-10-22 criteria provided, single submitter clinical testing
GeneDx RCV001591349 SCV001825955 likely benign not provided 2020-08-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935577 SCV004752169 likely benign MLH1-related disorder 2019-06-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV004002324 SCV004822236 likely benign Lynch syndrome 2024-02-05 criteria provided, single submitter clinical testing

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