ClinVar Miner

Submissions for variant NM_172351.3(CD46):c.604C>T (p.Leu202Phe)

dbSNP: rs750324925
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507530 SCV001713130 uncertain significance not provided 2021-03-16 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000735651 SCV000863791 pathogenic Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 2019-04-26 no assertion criteria provided clinical testing

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