ClinVar Miner

Submissions for variant NM_172351.3(CD46):c.685C>T (p.Arg229Ter)

dbSNP: rs1553251787
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002465694 SCV002760490 likely pathogenic not provided 2023-08-15 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000505668 SCV000599826 likely pathogenic Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 2017-04-20 no assertion criteria provided clinical testing

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