ClinVar Miner

Submissions for variant NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys)

gnomAD frequency: 0.00417  dbSNP: rs34324114
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Genomic and Experimental Medicine, University of Edinburgh RCV000492324 SCV000323215 uncertain significance Motor neuron disease 2024-02-15 criteria provided, single submitter case-control
Eurofins Ntd Llc (ga) RCV000355743 SCV000333634 likely benign not specified 2015-08-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001683152 SCV000604452 benign not provided 2023-10-23 criteria provided, single submitter clinical testing
Invitae RCV001080200 SCV000627782 benign Short-rib thoracic dysplasia 6 with or without polydactyly 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001080200 SCV001309741 likely benign Short-rib thoracic dysplasia 6 with or without polydactyly 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV001683152 SCV001902550 benign not provided 2020-01-31 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28089114, 28935222)
CeGaT Center for Human Genetics Tuebingen RCV001683152 SCV004011565 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing NEK1: BS2
Molecular Genetics, Royal Melbourne Hospital RCV001080200 SCV004812632 likely benign Short-rib thoracic dysplasia 6 with or without polydactyly 2023-06-06 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.