ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.381-5A>G

dbSNP: rs1060504016
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001439646 SCV001642538 likely benign Hereditary nonpolyposis colorectal neoplasms 2019-08-19 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001799084 SCV002042079 uncertain significance Breast and/or ovarian cancer 2020-05-06 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV005246022 SCV005896223 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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