ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1351-19G>A

gnomAD frequency: 0.00162  dbSNP: rs200963418
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
GeneDx RCV000128384 SCV000171980 benign not specified 2013-04-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen RCV002292475 SCV002585685 benign not provided 2025-02-01 criteria provided, single submitter clinical testing TCF4: BS1, BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV002515920 SCV002948447 benign Pitt-Hopkins syndrome 2025-01-27 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital Muenster RCV003231159 SCV003929466 likely benign See cases 2023-03-13 criteria provided, single submitter clinical testing ACMG categories: BS2,BP6

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.