ClinVar Miner

Submissions for variant NM_004618.5(TOP3A):c.1468-11G>T

dbSNP: rs3817992
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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 RCV001838922 SCV002098661 benign Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838921 SCV002098662 benign Microcephaly, growth restriction, and increased sister chromatid exchange 2 2021-09-10 criteria provided, single submitter clinical testing
Invitae RCV002074390 SCV002393415 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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