ClinVar Miner

Submissions for variant NM_030787.4(CFHR5):c.1214T>A (p.Val405Glu)

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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 RCV002294718 SCV002587709 uncertain significance Atypical hemolytic-uremic syndrome 2019-12-01 criteria provided, single submitter clinical testing

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