ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.1289T>C (p.Ile430Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294708 SCV002587653 uncertain significance Atypical hemolytic-uremic syndrome 2021-06-18 criteria provided, single submitter clinical testing

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