ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1039-5T>C

gnomAD frequency: 0.00001  dbSNP: rs587782626
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132011 SCV000187070 likely benign Hereditary cancer-predisposing syndrome 2020-02-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000203873 SCV000260358 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-19 criteria provided, single submitter clinical testing
Counsyl RCV000410390 SCV000489467 likely benign Colorectal cancer, hereditary nonpolyposis, type 2 2016-10-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000132011 SCV001358818 likely benign Hereditary cancer-predisposing syndrome 2019-11-11 criteria provided, single submitter clinical testing
GeneDx RCV001668281 SCV001883663 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000132011 SCV002528609 likely benign Hereditary cancer-predisposing syndrome 2021-10-26 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000410390 SCV004018095 benign Colorectal cancer, hereditary nonpolyposis, type 2 2023-03-13 criteria provided, single submitter clinical testing This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 25085752].

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