ClinVar Miner

Submissions for variant NM_000515.5(GH1):c.291+2T>C

dbSNP: rs863223310
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711802 SCV000842205 pathogenic not provided 2018-02-16 criteria provided, single submitter clinical testing
OMIM RCV000017350 SCV000037622 pathogenic Autosomal dominant isolated somatotropin deficiency 2003-02-01 no assertion criteria provided literature only

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