ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.78dup (p.Glu27Ter)

dbSNP: rs35619688
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284492 SCV001470319 pathogenic not provided 2020-07-17 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data.
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV001078436 SCV001244655 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation

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