ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.*132C>T

dbSNP: rs1420779550
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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 RCV000507917 SCV000601231 uncertain significance not specified 2016-11-04 criteria provided, single submitter clinical testing
Invitae RCV002524902 SCV003439599 likely pathogenic not provided 2022-08-09 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. ClinVar contains an entry for this variant (Variation ID: 439130). This variant has been observed in individual(s) with autosomal recessive beta thalassemia (PMID: 22862814, 31930713). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This variant occurs in a non-coding region of the HBB gene. It does not change the encoded amino acid sequence of the HBB protein.

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