ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.3826+1G>A (rs1009209509)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Klinikum rechts der Isar RCV000995635 SCV001149918 likely pathogenic Charcot-Marie-Tooth disease, type 4B3 2020-01-14 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000995635 SCV001367077 likely pathogenic Charcot-Marie-Tooth disease, type 4B3 2020-02-20 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.

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