ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.310G>A (p.Gly104Arg)

gnomAD frequency: 0.00006  dbSNP: rs200419722
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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 RCV000625622 SCV000746123 likely pathogenic Atypical hemolytic-uremic syndrome with I factor anomaly 2017-09-18 no assertion criteria provided clinical testing

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