ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.1432del (p.Thr478fs) (rs1131690783)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Genomic and Experimental Medicine,University of Edinburgh RCV000492262 SCV000323236 other Motor neuron disease 2016-08-31 criteria provided, single submitter case-control Loss-of-function but lacking segregation data

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