ClinVar Miner

Submissions for variant NM_000091.4(COL4A3):c.4707A>T (p.Pro1569=) (rs113401495)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250846 SCV000302080 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000250846 SCV000612949 benign not specified 2016-10-18 criteria provided, single submitter clinical testing
GeneDx RCV000879950 SCV000717947 benign not provided 2019-09-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000250846 SCV000967059 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Pro1569Pro in exon 50 of COL4A3: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 1.35% (132/9776) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs113401495).
Invitae RCV000879950 SCV001023007 benign not provided 2020-12-06 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.