ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.1150-1G>A

dbSNP: rs879255510
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518060 SCV000614396 pathogenic not provided 2016-10-05 criteria provided, single submitter clinical testing
OMIM RCV000005386 SCV000025566 pathogenic Autosomal dominant optic atrophy classic form 2000-10-01 no assertion criteria provided literature only

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