ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.425-2A>G

dbSNP: rs386833608
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000049535 SCV005668000 pathogenic Ornithine aminotransferase deficiency 2024-01-30 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049535 SCV000081972 probable-pathogenic Ornithine aminotransferase deficiency no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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