ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.9225-5795G>A

gnomAD frequency: 0.00025  dbSNP: rs138287985
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000999367 SCV001155947 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing DMD: BP4, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000999367 SCV001798211 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000999367 SCV001928868 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000999367 SCV001972050 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004545003 SCV004780365 benign DMD-related disorder 2021-01-22 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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