ClinVar Miner

Submissions for variant NM_000163.5(GHR):c.70+5G>A

dbSNP: rs2112477601
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001805740 SCV002053735 likely pathogenic Laron-type isolated somatotropin defect criteria provided, single submitter clinical testing

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