ClinVar Miner

Submissions for variant NM_000515.5(GH1):c.11-8C>T

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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 Medical Genetics and Applied Genomics, University Hospital Tübingen RCV002308491 SCV002600230 uncertain significance Ateleiotic dwarfism 2022-11-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003775013 SCV004614696 likely benign not provided 2023-08-24 criteria provided, single submitter clinical testing

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