ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1612G>C (p.Val538Leu)

gnomAD frequency: 0.18502  dbSNP: rs2304290
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 RCV001511396 SCV001718638 benign Multiple gastrointestinal atresias 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001692396 SCV001908797 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840811 SCV002100146 benign Gastrointestinal defects and immunodeficiency syndrome 1 2021-09-10 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003490279 SCV004233547 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 37% of patients studied by a panel of primary immunodeficiencies. Number of patients: 35. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001692396 SCV005241251 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.