ClinVar Miner

Submissions for variant NC_012920.1:m.9237G>A

dbSNP: rs1057516064
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002248640 SCV002517659 pathogenic Leber optic atrophy 2022-05-04 criteria provided, single submitter clinical testing
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal RCV000408945 SCV000484521 likely pathogenic Epilepsy; Mitochondrial encephalopathy; Developmental delay 2016-11-21 no assertion criteria provided clinical testing

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