ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.1302+20C>T

gnomAD frequency: 0.02932  dbSNP: rs56314574
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001518850 SCV001727624 benign Atrioventricular septal defect 5 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001676011 SCV001894061 benign not provided 2018-09-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001676011 SCV003800191 benign not provided 2023-11-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004699407 SCV005204766 benign not specified 2024-06-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001676011 SCV005251240 benign not provided criteria provided, single submitter not provided

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.