ClinVar Miner

Submissions for variant NM_015909.4(NBAS):c.2423+404G>C

gnomAD frequency: 0.00004  dbSNP: rs1019313682
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
Kids Research, The Children's Hospital at Westmead RCV001089504 SCV001244751 likely pathogenic Infantile liver failure syndrome 2 criteria provided, single submitter research
Undiagnosed Diseases Network, NIH RCV001089504 SCV002568418 likely pathogenic Infantile liver failure syndrome 2 2022-06-13 criteria provided, single submitter clinical testing
OMIM RCV001089504 SCV001712099 pathogenic Infantile liver failure syndrome 2 2024-03-12 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.