ClinVar Miner

Submissions for variant NM_002087.3(GRN):c.813_816del (p.Thr272fs) (rs63749877)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000084585 SCV001250432 pathogenic not provided 2018-02-01 criteria provided, single submitter clinical testing
OMIM RCV000017393 SCV000037665 pathogenic Grn-related frontotemporal lobar degeneration with Tdp43 inclusions 2012-06-08 no assertion criteria provided literature only
OMIM RCV000017394 SCV000037666 pathogenic Primary progressive aphasia 2012-06-08 no assertion criteria provided literature only
OMIM RCV000029169 SCV000051814 pathogenic Ceroid lipofuscinosis, neuronal, 11 2012-06-08 no assertion criteria provided literature only
VIB Department of Molecular Genetics, University of Antwerp RCV000084585 SCV000116721 not provided not provided no assertion provided not provided

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