ClinVar Miner

Submissions for variant NM_001067.4(TOP2A):c.1737+5G>A

gnomAD frequency: 0.00360  dbSNP: rs140672916
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714765 SCV000845493 uncertain significance not provided 2018-08-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000714765 SCV001101970 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000714765 SCV005093347 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing TOP2A: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003965469 SCV004788500 likely benign TOP2A-related disorder 2020-02-11 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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