ClinVar Miner

Submissions for variant NM_012224.3(NEK1):c.1081-15dup (rs398124255)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000297270 SCV000448568 likely benign Short Rib Polydactyly Syndrome 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000999945 SCV000604450 benign AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 2018-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000507755 SCV000728830 benign not specified 2018-03-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625338 SCV000744996 benign Short rib-polydactyly syndrome, Majewski type 2015-09-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081533 SCV000113464 uncertain significance not provided 2013-04-11 no assertion criteria provided clinical testing

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