ClinVar Miner

Submissions for variant NM_000375.3(UROS):c.197C>T (p.Ala66Val)

dbSNP: rs28941774
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 RCV000003950 SCV000024115 pathogenic Cutaneous porphyria 1992-02-01 no assertion criteria provided literature only
GeneReviews RCV000003950 SCV000086779 not provided Cutaneous porphyria no assertion provided literature only

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