ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1877_1883del (p.Phe626fs)

dbSNP: rs63751594
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075395 SCV000106389 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Myriad Genetics, Inc. RCV003451075 SCV004189927 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-24 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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