ClinVar Miner

Submissions for variant NM_017763.6(RNF43):c.1592G>A (p.Arg531His)

gnomAD frequency: 0.00062  dbSNP: rs148619997
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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 RCV001463960 SCV001667917 likely benign not provided 2024-01-10 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268490 SCV002551092 uncertain significance not specified 2024-07-31 criteria provided, single submitter clinical testing
GeneDx RCV001463960 SCV005333438 uncertain significance not provided 2024-02-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 36358773)
Ambry Genetics RCV002268490 SCV005486763 benign not specified 2024-10-28 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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