ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.1569G>T (p.Gly523=)

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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 RCV005037267 SCV005659936 uncertain significance Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2024-01-30 criteria provided, single submitter clinical testing

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