ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.1051G>C (p.Asp351His)

dbSNP: rs1577228080
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987378 SCV001136661 likely pathogenic Autosomal dominant optic atrophy classic form 2019-05-28 criteria provided, single submitter clinical testing
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001374996 SCV001572284 pathogenic Neurodevelopmental disorder 2020-12-07 criteria provided, single submitter clinical testing

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