ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1800_1805del (p.Ser601_Leu602del)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002467478 SCV002762844 uncertain significance Leber congenital amaurosis 6 2022-12-01 criteria provided, single submitter clinical testing A heterozygous 6 base pair deletion in Exon 15 of the RPGRIP1 gene that results in the in-frame deletion of amino acids (p.Ser601_Leu602del) was detected. This variant has not been reported in the 1000 genomes, gnomAD and our internal databases. The reference codons are conserved across species. In summary, the variant meets our criteria to be classified as variant of uncertain significance.

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.