ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.1638G>A (p.Trp546Ter)

dbSNP: rs2126178088
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001535876 SCV001752495 likely pathogenic Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2021-06-30 criteria provided, single submitter clinical testing

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