ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr)

gnomAD frequency: 0.00001  dbSNP: rs780770984
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598220 SCV000706013 uncertain significance not provided 2017-02-08 criteria provided, single submitter clinical testing
Invitae RCV000817532 SCV000958098 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000598220 SCV001772122 uncertain significance not provided 2023-03-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics RCV002476313 SCV002789732 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2022-04-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927925 SCV004743786 likely benign RPGRIP1L-related condition 2022-03-14 criteria provided, single submitter 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).
Natera, Inc. RCV001271341 SCV001452426 uncertain significance Familial aplasia of the vermis 2019-11-11 no assertion criteria provided 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.