ClinVar Miner

Submissions for variant NM_000941.3(POR):c.1822G>T (p.Val608Phe) (rs72552772)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000018403 SCV000038685 pathogenic Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 2004-03-01 no assertion criteria provided literature only

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