ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.659C>T (p.Pro220Leu)

dbSNP: rs72558426
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000083526 SCV004164824 likely pathogenic not provided 2023-10-01 criteria provided, single submitter clinical testing OTC: PM1, PM2, PM5, PP4, PS4:Supporting
GenMed Metabolism Lab RCV000083526 SCV000115612 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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