ClinVar Miner

Submissions for variant NM_002087.4(GRN):c.279G>A (p.Gly93=)

gnomAD frequency: 0.00014  dbSNP: rs63751088
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079794 SCV001012841 likely benign GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11 2023-08-03 criteria provided, single submitter clinical testing
VIB Department of Molecular Genetics, University of Antwerp RCV000084433 SCV000116569 not provided not provided no assertion provided not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000084433 SCV001809498 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000084433 SCV001968121 likely benign not provided no assertion criteria provided clinical testing

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