ClinVar Miner

Submissions for variant NM_030787.4(CFHR5):c.1264C>G (p.Leu422Val)

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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 RCV002294702 SCV002587636 likely benign Atypical hemolytic-uremic syndrome 2021-11-03 criteria provided, single submitter clinical testing

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