ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.1571A>G (p.Asp524Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004555240 SCV005044213 likely pathogenic Atypical hemolytic-uremic syndrome with I factor anomaly 2023-05-04 criteria provided, single submitter clinical testing ACMG Criteria: PP3_STR,PM5,PM2_SUP
Fulgent Genetics, Fulgent Genetics RCV005038708 SCV005659935 uncertain significance Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2024-05-22 criteria provided, single submitter clinical testing

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