ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2945T>A (p.Leu982Ter)

dbSNP: rs2040710629
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres RCV001264394 SCV001442512 pathogenic Duchenne muscular dystrophy criteria provided, single submitter clinical testing The c.2945T>A variant has been reported in Leiden Open (source) Variation Database (LOVD) version 3.0 ( https://databases.lovd.nl/shared/variants/0000674958#00000024 ) to be classified as pathogenic evidence.

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