ClinVar Miner

Submissions for variant NM_000823.4(GHRHR):c.731G>A (p.Trp244Ter)

gnomAD frequency: 0.00001  dbSNP: rs1049885467
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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 RCV001293712 SCV001482359 likely pathogenic Isolated growth hormone deficiency, type 4 2019-05-31 no assertion criteria provided research

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