ClinVar Miner

Submissions for variant NM_172351.3(CD46):c.714_715del (p.Gln238fs)

dbSNP: rs1571616755
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001029850 SCV002807014 likely pathogenic Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 2022-05-13 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029850 SCV001192636 pathogenic Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 2019-10-16 no assertion criteria provided clinical testing

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