ClinVar Miner

Submissions for variant NM_002087.4(GRN):c.723C>T (p.Ser241=)

gnomAD frequency: 0.00002  dbSNP: rs200408271
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000877445 SCV001020183 likely benign GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11 2024-10-27 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001288262 SCV001475246 likely benign not provided 2019-10-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000877445 SCV002812439 likely benign GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11 2021-10-11 criteria provided, single submitter clinical testing

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