ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro) (rs113994089)

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
Database of Curated Mutations (DoCM) RCV000422453 SCV000505286 likely pathogenic Neoplasm of brain 2014-12-26 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000427890 SCV000505287 likely pathogenic Neuroblastoma 2016-05-13 no assertion criteria provided literature only
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000019711 SCV000256818 pathogenic Neuroblastoma 3 2015-10-07 no assertion criteria provided clinical testing
GeneReviews RCV000019711 SCV000041067 pathologic Neuroblastoma 3 2012-09-27 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000019711 SCV000040009 risk factor Neuroblastoma 3 2012-03-01 no assertion criteria provided literature only

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.