ClinVar Miner

Submissions for variant NM_030787.4(CFHR5):c.678del (p.Glu226fs)

dbSNP: rs368209619
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000211432 SCV000268509 pathogenic CFHR5 deficiency 2016-03-17 criteria provided, single submitter clinical testing Loss of function mutations in the CHFR5 gene are known to be a cause of autosomic dominant nephropathy.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000211432 SCV004807047 uncertain significance CFHR5 deficiency 2024-03-26 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004696877 SCV005197446 uncertain significance not provided 2023-10-20 criteria provided, single submitter clinical testing

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