ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.112C>T (p.Arg38Ter) (rs761460379)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000992456 SCV001144788 pathogenic not provided 2019-06-27 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.
Blueprint Genetics RCV001075159 SCV001240771 likely pathogenic Retinal dystrophy 2018-10-09 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000992456 SCV001371192 pathogenic not provided 2020-05-01 criteria provided, single submitter clinical testing

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