ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3624G>T (p.Thr1208=)

dbSNP: rs377267217
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088741 SCV001067264 likely benign Wilson disease 2023-10-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000921851 SCV001156163 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001088741 SCV001977544 likely benign Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001088741 SCV001466736 uncertain significance Wilson disease 2020-08-07 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.