ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.254G>A (p.Arg85His) (rs35630194)

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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 RCV000081761 SCV000113696 benign not specified 2013-03-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278316 SCV000442611 uncertain significance Optic Atrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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