ClinVar Miner

Submissions for variant NM_000515.5(GH1):c.131A>C (p.His44Pro)

dbSNP: rs754126557
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital RCV001293731 SCV001482385 likely pathogenic Autosomal dominant isolated somatotropin deficiency 2019-05-31 no assertion criteria provided research

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