ClinVar Miner

Submissions for variant NM_000274.3(OAT):c.994G>A (p.Val332Met) (rs121965047)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049551 SCV000081988 probable-pathogenic Ornithine aminotransferase deficiency no assertion criteria provided not provided Converted during submission to Likely pathogenic.
OMIM RCV000000185 SCV000020328 pathogenic Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia 1993-11-01 no assertion criteria provided literature only

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