ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.316-179A>T

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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 RCV003477280 SCV004219878 uncertain significance not provided 2023-08-17 criteria provided, single submitter clinical testing The HBB c.316-179A>T variant, to the best of our knowledge, has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003477280 SCV004509445 likely benign not provided 2023-06-23 criteria provided, single submitter clinical testing

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