ClinVar Miner

Submissions for variant NM_000517.6(HBA2):c.95+11_95+34del

dbSNP: rs1445188229
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810721 SCV002048989 likely benign not provided 2023-02-16 criteria provided, single submitter clinical testing
Department of Medical Genetics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People’s Hospital of Yunnan Province RCV001289990 SCV001478023 benign alpha Thalassemia 2020-12-01 no assertion criteria provided clinical testing The proband was a 40-year-old male carrying HBA2:c.95+11_95+34delCTCCCCTGCTCCGACCCGGGCTCC. He had normal values for Hb (182 g/L), MCV (90.4 fL) and MCH (31.3 pg).

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