ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.4345-3C>G

dbSNP: rs2097987224
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199072 SCV001370067 pathogenic Dilated cardiomyopathy 3B 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PP3,PP4. This variant was detected in hemizygous state.
AiLife Diagnostics, AiLife Diagnostics RCV002224020 SCV002503059 uncertain significance not provided 2021-12-01 criteria provided, single submitter clinical testing

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