ClinVar Miner

Submissions for variant NM_000941.3(POR):c.1615G>A (p.Gly539Arg) (rs121912976)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000018415 SCV000038697 pathogenic Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 2008-09-01 no assertion criteria provided literature only
OMIM RCV000018416 SCV000038698 pathogenic Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 2008-09-01 no assertion criteria provided literature only

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