ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.31+83105G>A

gnomAD frequency: 0.00003  dbSNP: rs772161214
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Total submissions: 1
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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 RCV000220395 SCV000271674 uncertain significance not specified 2015-08-13 criteria provided, single submitter clinical testing The c.-12G>A variant in DMD has not been previously reported in individuals with cardiomyopathy or in large population studies. This variant is located in the 5 ' UTR and is part of the translation initiation (Kozak) sequence, but its effect on translation is unknown. In summary, the clinical significance of the c.-12G> A variant is uncertain.

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