ClinVar Miner

Submissions for variant NM_002087.4(GRN):c.1578C>T (p.Phe526=)

dbSNP: rs2143348471
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001494180 SCV001698829 likely benign GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11 2020-03-17 criteria provided, single submitter clinical testing

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