ClinVar Miner

Submissions for variant NM_001042545.2(LTBP4):c.4298A>T (p.Tyr1433Phe)

gnomAD frequency: 0.00722  dbSNP: rs35809725
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
Eurofins Ntd Llc (ga) RCV000346303 SCV000332755 benign not specified 2015-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001705409 SCV000525685 benign not provided 2018-07-02 criteria provided, single submitter clinical testing
Invitae RCV001705409 SCV002492564 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001705409 SCV002543931 benign not provided 2024-02-01 criteria provided, single submitter clinical testing LTBP4: BS1, BS2

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.