ClinVar Miner

Submissions for variant NM_004618.5(TOP3A):c.916-49G>A

gnomAD frequency: 0.21931  dbSNP: rs2294913
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001838926 SCV002098665 benign Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838925 SCV002098666 benign Microcephaly, growth restriction, and increased sister chromatid exchange 2 2021-09-10 criteria provided, single submitter clinical testing

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