ClinVar Miner

Submissions for variant NM_001010848.4(NRG3):c.1951G>A (p.Glu651Lys)

gnomAD frequency: 0.00261  dbSNP: rs138878772
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000957141 SCV001103938 benign not provided 2018-02-20 criteria provided, single submitter clinical testing
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) RCV000736040 SCV000845740 likely pathogenic Aganglionic megacolon no assertion criteria provided research

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.