ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1039-8del

dbSNP: rs57509953
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174226 SCV000225491 likely benign not specified 2014-09-16 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001180355 SCV001345271 likely benign Hereditary cancer-predisposing syndrome 2019-09-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798626 SCV002042067 likely benign Breast and/or ovarian cancer 2021-05-17 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000174226 SCV002552479 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV005246756 SCV005895104 benign Colorectal cancer, hereditary nonpolyposis, type 2 2024-11-21 criteria provided, single submitter clinical testing This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing.
Mayo Clinic Laboratories, Mayo Clinic RCV000174226 SCV000691860 benign not specified no assertion criteria provided clinical testing

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