ClinVar Miner

Submissions for variant NM_005154.5(USP8):c.2159C>G (p.Pro720Arg)

dbSNP: rs672601311
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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 Munich, Klinikum Rechts Der Isar, TU München RCV000149420 SCV000192011 pathogenic Pituitary dependent hypercortisolism 2014-11-18 no assertion criteria provided research
OMIM RCV000149420 SCV000605826 pathogenic Pituitary dependent hypercortisolism 2017-09-26 no assertion criteria provided literature only

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