ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.1043T>C (p.Leu348Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV003991227 SCV004808553 uncertain significance Atypical hemolytic-uremic syndrome with I factor anomaly 2022-07-27 criteria provided, single submitter clinical testing ACMG Criteria: PM1_SUP, PM2_SUP, BP4

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