ClinVar Miner

Submissions for variant NM_000375.3(UROS):c.-26-183G>A (rs397515349)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000003961 SCV000086645 pathogenic Congenital erythropoietic porphyria 2016-04-07 no assertion criteria provided literature only
OMIM RCV000003961 SCV000024126 pathogenic Congenital erythropoietic porphyria 2001-03-01 no assertion criteria provided literature only

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