ClinVar Miner

Submissions for variant NM_001199397.2(NEK1):c.481C>T (p.Arg161Ter) (rs202115635)

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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 RCV000492640 SCV000323223 other Motor neuron disease 2016-08-31 criteria provided, single submitter case-control Loss-of-function but lacking segregation data

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