ClinVar Miner

Submissions for variant NM_012224.3(NEK1):c.214+1G>A (rs1049502301)

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Total submissions: 2
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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 RCV000492619 SCV000323220 other Motor neuron disease 2016-08-31 criteria provided, single submitter case-control Loss-of-function but lacking segregation data
Dan Cohn Lab,University Of California Los Angeles RCV000515986 SCV000612101 pathogenic Short rib-polydactyly syndrome, Majewski type 2017-06-01 no assertion criteria provided research

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