ClinVar Miner

Submissions for variant NM_017763.6(RNF43):c.2308+1G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV002463988 SCV002758552 likely pathogenic Sessile serrated polyposis cancer syndrome 2022-12-05 no assertion criteria provided clinical testing The variant leads to a splicing defect: exon skipping or use of a cryptic splice site disrupts reading frame and is predicted to undergo NMD. The variant is absent from gnomAD.

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