ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.325del (p.His109fs)

dbSNP: rs1553641273
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000576407 SCV000677862 likely pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2016-12-20 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255464 SCV002528738 likely pathogenic Hereditary cancer-predisposing syndrome 2021-05-18 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000576407 SCV004020251 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-03-10 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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