ClinVar Miner

Submissions for variant NM_172351.3(CD46):c.542_543del (p.Val180_Phe181insTer)

dbSNP: rs1057516191
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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 RCV000408782 SCV000484918 pathogenic Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly no assertion criteria provided clinical testing

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