ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.7873-7T>G

dbSNP: rs886044016
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000392144 SCV000343055 uncertain significance not provided 2018-07-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005090388 SCV005756512 uncertain significance Duchenne muscular dystrophy 2024-07-10 criteria provided, single submitter clinical testing This sequence change falls in intron 53 of the DMD gene. It does not directly change the encoded amino acid sequence of the DMD protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 288823). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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