ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.9817_9819del (p.Lys3273del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004724380 SCV005340473 uncertain significance DMD-related disorder 2024-09-17 no assertion criteria provided clinical testing The DMD c.9817_9819delAAG variant is predicted to result in an in-frame deletion (p.Lys3273del). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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