ClinVar Miner

Submissions for variant NM_004618.5(TOP3A):c.865C>T (p.Arg289Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004797329 SCV005415918 likely pathogenic Microcephaly, growth restriction, and increased sister chromatid exchange 2; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 criteria provided, single submitter clinical testing PM2_Supporting+PVS1

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