ClinVar Miner

Submissions for variant NM_002087.4(GRN):c.1695C>T (p.Cys565=)

gnomAD frequency: 0.00004  dbSNP: rs63751248
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001431378 SCV001634134 likely benign GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11 2022-06-28 criteria provided, single submitter clinical testing
VIB Department of Molecular Genetics, University of Antwerp RCV000084497 SCV000116633 not provided not provided no assertion provided not provided

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