ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.1056+191744T>G

gnomAD frequency: 0.51877  dbSNP: rs2548861
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000650210 SCV000772047 benign Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001653971 SCV001869123 benign not provided 2020-06-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23197378, 18674750)

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.