ClinVar Miner

Submissions for variant NM_172351.3(CD46):c.776del (p.Gly259fs)

dbSNP: rs886039868
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000256379 SCV000323139 pathogenic Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly no assertion criteria provided clinical testing

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