ClinVar Miner

Submissions for variant NC_012920.1:m.11443A>C

dbSNP: rs1556423952
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626559 SCV000747260 uncertain significance Visual impairment; Optic atrophy; Central scotoma; Optic neuropathy; Optic neuritis 2017-01-01 criteria provided, single submitter clinical testing

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