ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.2848_2849del (p.Asp950fs) (rs879255513)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000005397 SCV000025578 pathogenic Dominant hereditary optic atrophy 2007-01-01 no assertion criteria provided literature only
OMIM RCV000023413 SCV000044704 pathogenic Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 2007-01-01 no assertion criteria provided literature only

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