ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.2991del (p.Arg998fs)

dbSNP: rs80356531
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000005393 SCV000025573 pathogenic Autosomal dominant optic atrophy classic form 2001-11-01 no assertion criteria provided literature only
GeneReviews RCV000005393 SCV000041285 not provided Autosomal dominant optic atrophy classic form no assertion provided literature only

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