ClinVar Miner

Submissions for variant NM_144643.4(SCLT1):c.638C>T (p.Thr213Ile)

gnomAD frequency: 0.00003  dbSNP: rs760824351
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 RCV002198064 SCV002360355 likely benign not provided 2025-01-11 criteria provided, single submitter clinical testing
Daryl Scott Lab, Baylor College of Medicine RCV002243512 SCV002515376 uncertain significance SCLT1-related disorder 2022-02-01 criteria provided, single submitter clinical testing
Daryl Scott Lab, Baylor College of Medicine RCV002279776 SCV002567951 uncertain significance Tracheoesophageal fistula 2022-08-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002198064 SCV004237143 uncertain significance not provided 2021-10-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV002243512 SCV004782198 likely benign SCLT1-related disorder 2024-07-16 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.