ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.1096C>T (p.Arg366Ter) (rs104893753)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790742 SCV000225379 pathogenic not provided 2012-08-08 criteria provided, single submitter clinical testing
OMIM RCV000005390 SCV000025570 pathogenic Dominant hereditary optic atrophy 2000-10-01 no assertion criteria provided literature only

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