ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.47del (p.Cys16fs)

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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 RCV002294716 SCV002587700 likely pathogenic Atypical hemolytic-uremic syndrome 2022-02-28 criteria provided, single submitter clinical testing

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