ClinVar Miner

Submissions for variant NM_000515.5(GH1):c.59G>A (p.Trp20Ter)

dbSNP: rs137853219
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV000017333 SCV001428574 pathogenic Ateleiotic dwarfism 2017-10-06 criteria provided, single submitter clinical testing This variant was identified as homozygous
OMIM RCV000017333 SCV000037605 pathogenic Ateleiotic dwarfism 1993-05-01 no assertion criteria provided literature only

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