ClinVar Miner

Submissions for variant NM_000517.6(HBA2):c.54del (p.Gly19fs)

dbSNP: rs1902037470
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People’s Hospital of Yunnan Province RCV001289991 SCV001478024 pathogenic alpha Thalassemia 2020-12-01 no assertion criteria provided clinical testing The proband was a 26-year-old female carrying HBA2:c.54delC. Hematological data were as follows: Hb 125 g/L, MCV 82.0 fL, MCH 26.5 pg.

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