ClinVar Miner

Submissions for variant NM_000163.5(GHR):c.559T>C (p.Trp187Arg)

dbSNP: rs886037910
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Programa de Ciencias Genomicas e Biotecnologia, Universidade Catolica de Brasilia RCV000240723 SCV000299271 pathogenic Short stature due to partial GHR deficiency no assertion criteria provided clinical testing

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