ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.4297_4299GAG[2] (p.Glu1435del) (rs138827116)

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
Invitae RCV000230850 SCV000288360 benign Neuroblastoma 3 2019-12-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000119975 SCV000333812 benign not specified 2015-09-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306508 SCV000429922 likely benign Neuroblastoma Susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022251 SCV001183966 benign Hereditary cancer-predisposing syndrome 2018-09-24 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
ITMI RCV000119975 SCV000084105 not provided not specified 2013-09-19 no assertion provided reference population

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.