ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.1739A>G (p.Glu580Gly)

dbSNP: rs2040925135
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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, University of Leipzig Medical Center RCV001253470 SCV001429185 uncertain significance Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2017-12-08 criteria provided, single submitter clinical testing

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