ClinVar Miner

Submissions for variant NM_000175.5(GPI):c.283-2A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine RCV003234639 SCV003932461 likely pathogenic Hereditary spherocytosis 2023-06-12 criteria provided, single submitter clinical testing

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