ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys) (rs104886270)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Gharavi Laboratory,Columbia University RCV000782215 SCV000920702 uncertain significance not provided 2018-09-16 criteria provided, single submitter research
Institute of Human Genetics, University of Leipzig Medical Center RCV000021597 SCV001440211 uncertain significance Alport syndrome 1, X-linked recessive 2021-08-17 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021597 SCV000042263 uncertain significance Alport syndrome 1, X-linked recessive 2018-04-13 no assertion criteria provided literature only
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000021597 SCV000746145 uncertain significance Alport syndrome 1, X-linked recessive 2017-09-28 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.