ClinVar Miner

Submissions for variant NM_017763.6(RNF43):c.575C>T (p.Pro192Leu)

gnomAD frequency: 0.00046  dbSNP: rs139557480
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001517805 SCV001726381 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268505 SCV002551113 uncertain significance not specified 2024-07-31 criteria provided, single submitter clinical testing
Mendelics RCV003492259 SCV004232602 likely benign Hereditary cancer 2024-01-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001517805 SCV005041878 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing RNF43: BS1
Breakthrough Genomics, Breakthrough Genomics RCV001517805 SCV005252821 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003931101 SCV004746747 likely benign RNF43-related disorder 2019-11-13 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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