ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.693_694insACTGCGTCCGCTCTGAGCTGGC (p.Val232fs)

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
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV004812544 SCV005421033 likely pathogenic Retinitis pigmentosa 2024-12-10 criteria provided, single submitter research The c.690_691insGGCACTGCGTCCGCTCTGAGCT variant in RDH12 reported in one family in homozygous state. This variant not reported in ExAC nor in 1000Genome. The variant was absent in 100 healthy controls screened. Additionally segregation analysis is also completed among the parents. The variant is classified as Likely pathogenic variant
Fulgent Genetics, Fulgent Genetics RCV005003813 SCV005629449 likely pathogenic Leber congenital amaurosis 13 2024-06-10 criteria provided, single submitter clinical testing

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.