ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1039-9_1039-8dup

dbSNP: rs57509953
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000470926 SCV000556000 benign Hereditary nonpolyposis colorectal neoplasms 2017-04-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001190861 SCV001358464 likely benign Hereditary cancer-predisposing syndrome 2018-11-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150225 SCV003838209 uncertain significance Breast and/or ovarian cancer 2022-06-02 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV004596210 SCV005090571 likely benign not specified 2024-07-31 criteria provided, single submitter clinical testing

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