ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.381-14T>C

dbSNP: rs1057522526
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421107 SCV000528254 likely benign not specified 2016-05-26 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 RCV001183956 SCV001349814 likely benign Hereditary cancer-predisposing syndrome 2019-10-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002521796 SCV003270363 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-11-05 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV005246993 SCV005897407 likely benign Colorectal cancer, hereditary nonpolyposis, type 2 2024-11-19 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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