ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1039-7_1040del

gnomAD frequency: 0.00061  dbSNP: rs1559551447
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987167 SCV001136399 uncertain significance Colorectal cancer, hereditary nonpolyposis, type 2 2019-05-28 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000987167 SCV004185750 likely pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-19 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.

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