ClinVar Miner

Submissions for variant NM_002087.3(GRN):c.388_391del (p.Gln130fs) (rs63749801)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000084442 SCV000613576 pathogenic not provided 2016-12-07 criteria provided, single submitter clinical testing
Human Genetics Group at Institute of Prion Diseases London,University College London RCV000736253 SCV000864550 pathogenic Frontotemporal dementia 2017-02-01 criteria provided, single submitter research frameshift mutations in GRN cause haploinsufficiency and disease. Several mutations at this codon causing deleterious frameshift mutations have been reported on molgen
OMIM RCV000017384 SCV000037656 pathogenic Grn-related frontotemporal lobar degeneration with Tdp43 inclusions 2006-08-24 no assertion criteria provided literature only
VIB Department of Molecular Genetics, University of Antwerp RCV000084442 SCV000116578 not provided not provided no assertion provided not provided

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