ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.-31C>T (rs63750628)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755548 SCV000603911 likely benign not provided 2017-08-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000029956 SCV000914521 uncertain significance beta Thalassemia 2018-12-05 criteria provided, single submitter clinical testing The HBB c.-31C>T variant, commonly referred to as 5’UTR+20, C>T, has been described in at least four studies in which it is found in cis with the same intronic variant, c.316-106C>G (commonly referred to as IVS-II-745 (C>G)). The c.-31C>T variant was found in a homozygous state in three individuals with a severe form of beta-thalassemia, in a compound heterozygous state in an additional three individuals with the same severe phenotype, and in a heterozygous state in six individuals, all with a milder phenotype. In all cases, the c.-31C>T variant was in cis with the intronic variant (Yavarian et al. 2001; Liaw et al. 2009; Ropero et al. 2013; Farashi et al. 2015). Sirdah et al. (2013) also reported the c.-31C>T variant in a compound heterozygous state in one individual with beta-thalassemia who did not carry the intronic variant. The c.-31C>T variant is reported at a frequency of 0.00014 in the European (non-Finnish) population of the Exome Aggregation Consortium. Based on the evidence, the c.-31C>T variant is classified as a variant of unknown significance for HBB-related disorders.
Integrated Genetics/Laboratory Corporation of America RCV000029956 SCV000052611 uncertain beta Thalassemia 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507019 SCV000601287 uncertain significance not specified 2017-06-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000755548 SCV000888153 uncertain significance not provided 2017-11-21 criteria provided, single submitter clinical testing

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