ClinVar Miner

Submissions for variant NM_000517.6(HBA2):c.143del (p.Asp48fs)

gnomAD frequency: 0.00004  dbSNP: rs281864539
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272715 SCV002556774 pathogenic alpha Thalassemia 2021-07-23 criteria provided, single submitter clinical testing

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