ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.0_92+25del

dbSNP: rs1564875707
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Core Molecular Diagnostic Lab, McGill University Health Centre RCV000722073 SCV000852061 pathogenic beta Thalassemia 2018-11-13 criteria provided, single submitter clinical testing
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV000722073 SCV001244449 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation

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