ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.87G>A (p.Lys29=)

dbSNP: rs1592350887
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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 Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995895 SCV001150286 pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2018-02-09 criteria provided, single submitter clinical testing

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