ClinVar Miner

Submissions for variant NM_000361.3(THBD):c.563C>G (p.Ala188Gly)

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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 RCV002294689 SCV002587558 uncertain significance Atypical hemolytic-uremic syndrome 2022-03-15 criteria provided, single submitter clinical testing

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