ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6523-6T>C

gnomAD frequency: 0.00003  dbSNP: rs794727692
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
Eurofins Ntd Llc (ga) RCV000178672 SCV000230797 uncertain significance not provided 2015-03-11 criteria provided, single submitter clinical testing
Invitae RCV001451553 SCV001655185 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002517742 SCV003564387 uncertain significance Inborn genetic diseases 2021-03-23 criteria provided, single submitter clinical testing The c.6523-6T>C intronic alteration consists of a T to C substitution 6 nucleotides before exon 48 (coding exon 47) of the CEP290 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.