ClinVar Miner

Submissions for variant NM_000091.4(COL4A3):c.766-13G>A (rs77431913)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000365166 SCV000428154 likely benign Alport syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000247695 SCV000711870 benign not specified 2016-03-21 criteria provided, single submitter clinical testing c.766-13G>A in intron 13 of COL4A3: This variant is not expected to have clinica l significance because it has been identified in 18.09% (1554/8590) of East Asia n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs77431913).
PreventionGenetics RCV000247695 SCV000302085 benign not specified criteria provided, single submitter 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.