ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.316-100T>A

dbSNP: rs1847534694
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001489014 SCV001693548 likely benign not provided 2023-12-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001489014 SCV004219875 uncertain significance not provided 2023-01-10 criteria provided, single submitter clinical testing To the best of our knowledge, the variant has not been reported in the published literature. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect HBB mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.

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