ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.980C>G (p.Pro327Arg)

dbSNP: rs1589698958
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029755 SCV001192533 likely pathogenic Ornithine aminotransferase deficiency 2019-03-12 no assertion criteria provided clinical testing

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