ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1770T>C (p.Ser590=)

gnomAD frequency: 0.00002  dbSNP: rs966605945
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 RCV001437651 SCV001640510 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-06-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501546 SCV002808650 likely benign Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2022-04-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733313 SCV005358580 likely benign RPGRIP1L-related disorder 2024-05-14 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.