ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.1149+3A>T

dbSNP: rs1733207545
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia RCV001255704 SCV001424314 uncertain significance Autosomal dominant optic atrophy classic form criteria provided, single submitter clinical testing

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