ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.994G>A (p.Val332Met)

dbSNP: rs121965047
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000049551 SCV004208962 pathogenic Ornithine aminotransferase deficiency 2022-01-31 criteria provided, single submitter clinical testing
OMIM RCV000000185 SCV000020328 pathogenic Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia 1993-11-01 no assertion criteria provided literature only
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.

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