ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.885C>G (p.Asn295Lys)

dbSNP: rs750185470
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001647169 SCV001519160 likely pathogenic Autosomal dominant optic atrophy classic form 2021-01-04 criteria provided, single submitter research

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