ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.970T>C (p.Ser324Pro)

dbSNP: rs2109011385
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
WangQJ Lab, Chinese People's Liberation Army General Hospital RCV001822916 SCV001762445 likely pathogenic Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 2021-07-01 no assertion criteria provided clinical testing

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