ClinVar Miner

Submissions for variant NM_000517.6(HBA2):c.70G>T (p.Glu24Ter)

dbSNP: rs281864819
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985729 SCV001134202 likely pathogenic not provided 2018-11-15 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein.
OMIM RCV000016976 SCV000037248 pathogenic alpha Thalassemia 2004-08-01 no assertion criteria provided literature only
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV000016976 SCV001244391 pathogenic alpha Thalassemia 2019-11-25 no assertion criteria provided curation

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