ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.1635C>G (p.Ser545Arg) (rs398124298)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000023415 SCV000044706 pathogenic Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 2010-03-01 no assertion criteria provided literature only
Wellcome Centre for Mitochondrial Research,Newcastle University RCV000508898 SCV000575922 pathogenic Mitochondrial diseases 2017-04-07 no assertion criteria provided clinical testing

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