ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2984del (p.Glu995fs)

dbSNP: rs63749938
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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) RCV000074794 SCV000108005 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Myriad Genetics, Inc. RCV003450955 SCV004187117 pathogenic Lynch syndrome 5 2023-08-21 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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