ClinVar Miner

Submissions for variant NM_001301071.2(DOK7):c.1541-5dup

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV005242482 SCV005889771 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing DOK7: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003907275 SCV004729135 benign DOK7-related disorder 2024-01-10 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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