ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.1372_1373del (p.Val458fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003391164 SCV004101806 pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2023-11-14 criteria provided, single submitter clinical testing

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