ClinVar Miner

Submissions for variant NM_002087.3(GRN):c.385dup (p.Ser129fs) (rs1567886206)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics Group at Institute of Prion Diseases London,University College London RCV000736256 SCV000864553 pathogenic Frontotemporal dementia 2017-02-01 criteria provided, single submitter research frameshift mutation in GRN, adjacent to two other frameshift mutation at codon 130 reported deleterious

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