ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.993_994insTC (p.Ala332fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV004442622 SCV004930984 pathogenic Familial adenomatous polyposis 4 2024-03-29 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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