ClinVar Miner

Submissions for variant NM_005993.5(TBCD):c.1534-4G>A

gnomAD frequency: 0.00118  dbSNP: rs116536514
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000959464 SCV001106373 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000959464 SCV001371362 likely benign not provided 2021-12-01 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252274 SCV002523598 uncertain significance See cases 2020-03-10 criteria provided, single submitter clinical testing ACMG classification criteria: BP4

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.