ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.2772C>G (p.Leu924=)

gnomAD frequency: 0.00201  dbSNP: rs117473319
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245248 SCV000312269 likely benign not specified criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625375 SCV000745138 likely benign Nephronophthisis 15 2017-06-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000625375 SCV000772131 benign Nephronophthisis 15 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000625375 SCV002806677 likely benign Nephronophthisis 15 2021-11-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001706350 SCV005218062 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000245248 SCV001924022 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001706350 SCV001931522 likely benign not provided 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.