ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.1606_1608+10delinsCAGTCCACAAATCT

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV002287312 SCV002577605 pathogenic Autosomal dominant optic atrophy classic form 2022-06-28 criteria provided, single submitter clinical testing PVS1, PM2, PP4

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