ClinVar Miner

Submissions for variant NM_004618.5(TOP3A):c.1282-21G>A

gnomAD frequency: 0.98602  dbSNP: rs6502645
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001838924 SCV002098663 benign Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838923 SCV002098664 benign Microcephaly, growth restriction, and increased sister chromatid exchange 2 2021-09-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710390 SCV005248658 benign not provided criteria provided, single submitter not provided

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