ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.3247-10G>A

gnomAD frequency: 0.00007  dbSNP: rs369817184
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
Invitae RCV000878111 SCV001020963 benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001278789 SCV002797973 likely benign X-linked Alport syndrome 2021-09-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908357 SCV004718575 likely benign COL4A5-related condition 2021-10-21 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001278789 SCV001465821 likely benign X-linked Alport syndrome 2020-08-31 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.