ClinVar Miner

Submissions for variant NC_000014.9:g.(?_21287977)_(21288061_?)dup

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
Labcorp Genetics (formerly Invitae), Labcorp RCV001032665 SCV001195972 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2019-10-03 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with RPGRIP1-related conditions. This variant results in a copy number gain of the genomic region encompassing exon 1 of the RPGRIP1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the RPGRIP1 gene. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome.

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.