ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.1886C>T (rs139361545)

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
GeneDx RCV000727017 SCV000621152 likely benign not provided 2020-11-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727017 SCV000704972 uncertain significance not provided 2018-03-27 criteria provided, single submitter clinical testing
Invitae RCV000727017 SCV001031662 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001171326 SCV001328273 uncertain significance Chronic kidney disease 2020-05-28 criteria provided, single submitter research PP3
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV001195565 SCV001365958 likely benign not specified 2020-01-14 criteria provided, single submitter clinical testing The p.Thr629Met variant in COL4A3 is classified as likely benign because it has been identified in 0.3% (77/24158) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis suggest that this variant may not impact the protein. ACMG/AMP Criteria applied: BS1, BP4.
Natera, Inc. RCV001274582 SCV001458841 uncertain significance Alport syndrome 2020-01-24 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.