ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1447G>A (p.Gly483Arg)

gnomAD frequency: 0.00166  dbSNP: rs150438028
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 RCV000695063 SCV000823540 likely benign Multiple gastrointestinal atresias 2024-01-26 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001509149 SCV001715706 uncertain significance not provided 2019-08-11 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV003483710 SCV004228513 not provided Gastrointestinal defect and immunodeficiency syndrome no assertion provided phenotyping only Variant interpreted as Likely benign and reported on 06-27-2019 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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.