ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1038+9G>A

gnomAD frequency: 0.00001  dbSNP: rs267607817
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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 RCV000198958 SCV000253128 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-10-30 criteria provided, single submitter clinical testing
GeneDx RCV000434756 SCV000513619 likely benign not specified 2017-03-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV000580711 SCV000684711 likely benign Hereditary cancer-predisposing syndrome 2016-07-28 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003454494 SCV004186064 benign Colorectal cancer, hereditary nonpolyposis, type 2 2023-11-22 criteria provided, single submitter clinical testing This variant is considered benign. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 27363726]. This variant is intronic and is not expected to impact mRNA splicing.

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