ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.373C>A (p.Pro125Thr)

dbSNP: rs35461710
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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 RCV001289992 SCV001478025 benign beta Thalassemia 2020-12-01 no assertion criteria provided clinical testing The proband presented the HBB:c.373C>A mutation in a heterozygote state. The carrier had normal hematological parameters (Hb 162 g/L, MCV 91.4 fL, MCH 30.3 pg)

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