ClinVar Miner

Submissions for variant NM_000370.3(TTPA):c.471C>A (p.Ile157=)

gnomAD frequency: 0.00001  dbSNP: rs572263038
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 RCV000929292 SCV001074920 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001664553 SCV001879532 benign not specified 2021-02-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279459 SCV001466554 benign Familial isolated deficiency of vitamin E 2020-08-25 no assertion criteria provided clinical testing

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.