ClinVar Miner

Submissions for variant NM_015937.6(PIGT):c.12T>C (p.Ala4=)

gnomAD frequency: 0.00172  dbSNP: rs371353348
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 RCV000917352 SCV001062627 benign Multiple congenital anomalies-hypotonia-seizures syndrome 3 2025-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001788378 SCV002030866 likely benign not provided 2021-06-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533528 SCV004742933 likely benign PIGT-related disorder 2019-09-17 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.