ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3603+2dup

dbSNP: rs796523999
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596214 SCV000701457 pathogenic not provided 2017-12-11 criteria provided, single submitter clinical testing
Mendelics RCV000990679 SCV001141702 pathogenic Duchenne muscular dystrophy 2019-05-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000596214 SCV002021025 pathogenic not provided 2022-04-19 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV004788004 SCV005401012 pathogenic Becker muscular dystrophy 2023-06-22 criteria provided, single submitter clinical testing The observed splice region c.3603+2dup variant in DMD gene has been reported previously in hemizygous and heterozygous states in individuals affected with DMD-related dystrophinopathies (Xu Y, et al., 2018; Juan-Mateu J, et al., 2013; Deburgrave N, et al., 2007). The c.3603+2dup variant is absent in gnomAD Exomes. This variant has been submitted to the ClinVar database as Pathogenic. SpliceAI predicts this variant to cause splice donor loss (0.83). Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Pathogenic.

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