ClinVar Miner

Submissions for variant NM_003661.4(APOL1):c.792C>A (p.Asn264Lys)

gnomAD frequency: 0.00777  dbSNP: rs73885316
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001523363 SCV001733058 benign not provided 2024-11-28 criteria provided, single submitter clinical testing
GeneDx RCV001523363 SCV002013213 likely benign not provided 2020-03-31 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27073096)
Genetic Services Laboratory, University of Chicago RCV001702115 SCV002070854 benign not specified 2021-06-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001523363 SCV005210413 likely benign not provided criteria provided, single submitter not provided
CeGaT Center for Human Genetics Tuebingen RCV001523363 SCV005435938 benign not provided 2024-10-01 criteria provided, single submitter clinical testing APOL1: BP4, BS1, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702115 SCV001930243 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702115 SCV001968340 benign not specified 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.