ClinVar Miner

Submissions for variant NM_000188.3(HK1):c.2219+27T>C

gnomAD frequency: 0.56586  dbSNP: rs2278745
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001702055 SCV001933059 benign Hemolytic anemia due to hexokinase deficiency 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702056 SCV001933060 benign Neurodevelopmental disorder with visual defects and brain anomalies 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702352 SCV001933061 benign Charcot-Marie-Tooth disease type 4G 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001703325 SCV001933062 benign Retinitis pigmentosa 79 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718958 SCV005318908 benign not provided criteria provided, single submitter not provided

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.