ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.7340C>T (p.Ser2447Phe)

gnomAD frequency: 0.00022  dbSNP: rs200750445
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000549183 SCV000646839 likely benign Familial acute necrotizing encephalopathy 2022-12-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000549183 SCV002795064 likely benign Familial acute necrotizing encephalopathy 2022-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003431094 SCV004148990 benign not provided 2023-01-01 criteria provided, single submitter clinical testing RANBP2: BP4, BS1, BS2

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.