ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1528_1532delinsACTAGTTTG (p.Gln510fs)

dbSNP: rs2083718945
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001250249 SCV001424454 likely pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV001250249 SCV004189951 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-20 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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