ClinVar Miner

Submissions for variant NM_000515.4(GH1):c.116C>T (p.Ala39Val) (rs151263636)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000300522 SCV000337460 benign not specified 2015-11-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363532 SCV000404745 uncertain significance Isolated Growth Hormone Deficiency 2016-06-14 criteria provided, single submitter clinical testing

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