ClinVar Miner

Submissions for variant NM_000375.3(UROS):c.-26-197C>A

dbSNP: rs397515351
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000003963 SCV000024128 pathogenic Cutaneous porphyria 2001-03-01 no assertion criteria provided literature only
GeneReviews RCV000003963 SCV000086643 not provided Cutaneous porphyria no assertion provided literature only Pathogenic variants in the erythroid-specific promoter region 2

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