ClinVar Miner

Submissions for variant NM_000375.3(UROS):c.673G>A (p.Gly225Ser) (rs121908020)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000003964 SCV000024129 pathogenic Congenital erythropoietic porphyria 2001-03-01 no assertion criteria provided literature only
GeneReviews RCV000003964 SCV000086783 pathologic Congenital erythropoietic porphyria 2013-09-12 no assertion criteria provided curation Converted during submission to Pathogenic.

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