ClinVar Miner

Submissions for variant NM_002087.4(GRN):c.373C>T (p.Gln125Ter)

dbSNP: rs63750077
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000017380 SCV000037652 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 RCV000084439 SCV000116575 not provided not provided no assertion provided not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000084439 SCV001808059 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000084439 SCV001969475 pathogenic not provided no assertion criteria provided clinical testing

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