ClinVar Miner

Submissions for variant NM_000558.5(HBA1):c.*79C>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Dr. Eberhard & Partner Dortmund RCV003517870 SCV004363588 uncertain significance Thalassemia 2023-07-07 criteria provided, single submitter clinical testing This variant was absent from literature, variant databases and control databases. The computational evidence is inconclusive. There is no evidence for a stabilizing region next to the variant position in the 3' UTR. The wildtype mRNA is supposed to form a bulge at the base 79 (position 98 in the 3' UTR). The change from C to A at position 79

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