ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.53del (p.His18fs)

dbSNP: rs72552299
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenMed Metabolism Lab RCV000083479 SCV000115565 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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