ClinVar Miner

Submissions for variant NM_032538.3(TTBK1):c.2820C>T (p.Asn940=)

gnomAD frequency: 0.00755  dbSNP: rs55950221
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000962888 SCV001109999 benign not provided 2018-07-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000962888 SCV004161678 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing TTBK1: BP4, BP7, BS2

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.