ClinVar Miner

Submissions for variant NM_002160.4(TNC):c.1642G>A (p.Val548Met)

gnomAD frequency: 0.00984  dbSNP: rs61729478
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000953274 SCV001099837 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000953274 SCV001146204 benign not provided 2019-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000953274 SCV001838587 benign not provided 2019-01-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271124 SCV002554549 benign Autosomal dominant nonsyndromic hearing loss 56 2022-03-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000953274 SCV004160639 benign not provided 2023-05-01 criteria provided, single submitter clinical testing TNC: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000953274 SCV005317613 benign not provided criteria provided, single submitter not provided

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.