ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.2635C>T (p.Arg879Ter)

dbSNP: rs879255593
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073476 SCV001239019 pathogenic Retinal dystrophy 2019-03-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003133183 SCV003810654 likely pathogenic not provided 2021-12-23 criteria provided, single submitter clinical testing
OMIM RCV000210747 SCV000266837 pathogenic Abortive cerebellar ataxia 2016-08-18 no assertion criteria provided literature only

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