ClinVar Miner

Submissions for variant NM_017763.6(RNF43):c.1825C>T (p.Arg609Trp)

gnomAD frequency: 0.00075  dbSNP: rs139405076
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001514951 SCV001722921 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001514951 SCV002011584 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268497 SCV002551086 uncertain significance not specified 2024-07-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001514951 SCV004810917 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing RNF43: BP4

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