ClinVar Miner

Submissions for variant NM_001330700.2(TOP2B):c.396-17_396-5del

dbSNP: rs56986587
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001392220 SCV001593861 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001392220 SCV004149314 benign not provided 2022-10-01 criteria provided, single submitter clinical testing TOP2B: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003973225 SCV004786168 likely benign TOP2B-related disorder 2023-11-22 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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