ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.92A>C (p.Lys31Thr)

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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 RCV005024957 SCV005658443 uncertain significance Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2024-05-27 criteria provided, single submitter clinical testing

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