ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.1355C>A (p.Ala452Asp)

dbSNP: rs1579164519
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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 RCV001029907 SCV001192703 uncertain significance Atypical hemolytic-uremic syndrome with I factor anomaly 2019-04-26 no assertion criteria provided clinical testing

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