ClinVar Miner

Submissions for variant NM_018116.4(MSTO1):c.716C>A (p.Ser239Tyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV002291182 SCV005328378 likely pathogenic Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 2024-09-26 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV002291182 SCV002583461 uncertain significance Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 2022-05-02 no assertion criteria provided clinical testing

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