ClinVar Miner

Submissions for variant NM_005154.5(USP8):c.2153C>G (p.Ser718Cys)

dbSNP: rs672601308
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000149418 SCV000192009 pathogenic Pituitary dependent hypercortisolism 2014-11-18 no assertion criteria provided research

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