ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.316-1G>C

dbSNP: rs33952266
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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 RCV001800306 SCV002047203 pathogenic not provided 2021-05-28 criteria provided, single submitter clinical testing This pathogenic variant abolishes the synthesis of normal beta-globin mRNA from the mutant allele and is associated with beta(0)-thalassemia ( PMID: 1398296 (1992)).
OMIM RCV000016774 SCV000037044 pathogenic Beta zero thalassemia 1992-03-01 no assertion criteria provided literature only
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV001078268 SCV001244416 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation

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