ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1428del (p.Asn477fs)

dbSNP: rs2104086603
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Human Genetics, Hannover Medical School RCV002254243 SCV002525498 pathogenic Lynch syndrome 1 2022-06-09 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV002254243 SCV004187020 pathogenic Lynch syndrome 1 2023-08-02 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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