ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.347C>T (p.Ser116Leu)

gnomAD frequency: 0.00084  dbSNP: rs115234247
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 RCV000898811 SCV001043039 likely benign Multiple gastrointestinal atresias 2024-12-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884794 SCV004702637 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing TTC7A: BP4
PreventionGenetics, part of Exact Sciences RCV003950520 SCV004761197 likely benign TTC7A-related disorder 2022-02-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.