ClinVar Miner

Submissions for variant NP_002078.1(GRN):p.Ser449_Thr455del

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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 RCV000754568 SCV000882439 likely pathogenic Frontotemporal dementia 2017-02-01 criteria provided, single submitter research not on exac, not on google. Deletion slightly earlier in the gene has been described to cause young onset neurodegeneration, but insufficient information about exon 11. CADD phred 22.8

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