ClinVar Miner

Submissions for variant NM_000064.4(C3):c.2485TTC[1] (p.Phe830del)

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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 RCV002294717 SCV002587708 uncertain significance Atypical hemolytic-uremic syndrome 2020-02-01 criteria provided, single submitter clinical testing

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