ClinVar Miner

Submissions for variant NM_000515.5(GH1):c.456+1G>C

dbSNP: rs797044449
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989292 SCV004807661 uncertain significance Ateleiotic dwarfism 2024-03-29 criteria provided, single submitter clinical testing
OMIM RCV000017336 SCV000037608 pathogenic Isolated growth hormone deficiency type IB 1993-05-01 no assertion criteria provided literature only

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