ClinVar Miner

Submissions for variant NM_017763.6(RNF43):c.319G>A (p.Val107Ile)

gnomAD frequency: 0.00049  dbSNP: rs199909371
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001408234 SCV001610228 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268482 SCV002551118 uncertain significance not specified 2024-07-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504681 SCV002810791 likely benign Sessile serrated polyposis cancer syndrome 2021-11-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001408234 SCV004145746 benign not provided 2022-08-01 criteria provided, single submitter clinical testing RNF43: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003908592 SCV004725488 likely benign RNF43-related disorder 2023-03-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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