ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.1118G>C (p.Cys373Ser)

dbSNP: rs1579173999
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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 RCV001029951 SCV001192749 likely pathogenic Atypical hemolytic-uremic syndrome with I factor anomaly 2019-07-02 no assertion criteria provided clinical testing

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