ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1323T>C (p.Leu441=)

gnomAD frequency: 0.00004  dbSNP: rs376335724
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001403637 SCV001605512 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-11-27 criteria provided, single submitter clinical testing
GeneDx RCV002265028 SCV002546588 uncertain significance not provided 2023-02-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004531229 SCV004719641 likely benign RPGRIP1L-related disorder 2022-06-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.