ClinVar Miner

Submissions for variant NM_000163.5(GHR):c.945G>A (p.Lys315=)

dbSNP: rs1554040858
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000582894 SCV000692136 pathogenic Laron-type isolated somatotropin defect 2018-01-04 criteria provided, single submitter clinical testing

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