ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.9980_9981insTAG (p.Tyr3326_Arg3327insSer)

dbSNP: rs2041040360
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199028 SCV001370023 likely pathogenic Dilated cardiomyopathy 3B 2019-04-24 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PP3,PP4,PM1,PM2. This variant was detected in hemizygous state.

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