ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.123A>G (p.Ala41=)

dbSNP: rs569208946
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 RCV000861102 SCV001001323 benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-12-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294386 SCV002587154 likely benign Kidney disorder 2016-12-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273902 SCV001457496 benign Familial aplasia of the vermis 2020-04-24 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.