ClinVar Miner

Submissions for variant NM_012224.2(NEK1):c.2151T>G (p.Asn717Lys) (rs34324114)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755587 SCV000604452 benign not provided 2017-07-06 criteria provided, single submitter clinical testing
Centre for Genomic and Experimental Medicine,University of Edinburgh RCV000492324 SCV000323215 likely pathogenic Motor neuron disease 2016-08-31 criteria provided, single submitter case-control
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000355743 SCV000333634 likely benign not specified 2015-08-14 criteria provided, single submitter clinical testing
Invitae RCV000552640 SCV000627782 benign Short rib-polydactyly syndrome, Majewski type 2017-04-11 criteria provided, single submitter clinical testing

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