ClinVar Miner

Submissions for variant NM_001032280.3(TFAP2A):c.743G>A (p.Arg248Gln) (rs151344530)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623229 SCV000742959 likely pathogenic Inborn genetic diseases 2017-09-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000660306 SCV000782344 likely pathogenic Branchiooculofacial syndrome 2016-11-01 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.