ClinVar Miner

Submissions for variant NM_002087.3(GRN):c.753_754TG[3] (p.Cys253_Asp254delinsTer) (rs63751035)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics Group at Institute of Prion Diseases London,University College London RCV000736250 SCV000864547 pathogenic Frontotemporal dementia 2017-02-01 criteria provided, single submitter clinical testing Variant causing termination in GRN. Haploinsufficiency is a well established cause of disease in GRN
Institute of Human Genetics,Klinikum rechts der Isar RCV000995785 SCV001150133 pathogenic Grn-related frontotemporal lobar degeneration with Tdp43 inclusions 2018-01-23 criteria provided, single submitter clinical testing
VIB Department of Molecular Genetics, University of Antwerp RCV000084455 SCV000116591 not provided not provided no assertion provided not provided

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