ClinVar Miner

Submissions for variant NM_000274.3(OAT):c.1311G>T (p.Leu437Phe) (rs1800456)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513174 SCV000608573 uncertain significance not provided 2018-09-30 criteria provided, single submitter clinical testing
Invitae RCV000531312 SCV000626797 likely benign Gyrate atrophy 2016-09-20 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049525 SCV000081962 probable-pathogenic Ornithine aminotransferase deficiency no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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