ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.1294A>G (p.Ile432Val) (rs387906899)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000023414 SCV000044705 pathogenic Autosomal dominant optic atrophy plus syndrome 2008-11-25 no assertion criteria provided literature only
Wellcome Centre for Mitochondrial Research,Newcastle University RCV000508763 SCV000575921 pathogenic Mitochondrial diseases 2017-04-07 no assertion criteria provided clinical testing

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