ClinVar Miner

Submissions for variant NM_002439.5:c.(-54_?)_(358+50_359-50)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ RCV003330205 SCV004037222 likely pathogenic Familial adenomatous polyposis 4 2023-04-19 criteria provided, single submitter clinical testing This deletion of exons 1-2 of MSH3 is supposed to result in an non-functional gene product and is not present in gnomAD SVs. Thus, it is classified as likely pathogenic for recessive FAP4.

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