ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.9225-5819G>T

gnomAD frequency: 0.00026  dbSNP: rs377152944
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000220771 SCV000271677 uncertain significance not specified 2015-06-23 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign.
PreventionGenetics, part of Exact Sciences RCV004737341 SCV005344543 likely benign DMD-related disorder 2024-03-21 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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