ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1830G>A (p.Pro610=)

gnomAD frequency: 0.00001  dbSNP: rs375689672
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 RCV000941018 SCV001086894 likely benign Wilson disease 2024-10-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001172065 SCV001335000 likely benign not provided 2020-03-01 criteria provided, single submitter clinical testing
GeneDx RCV001172065 SCV002504566 likely benign not provided 2019-12-23 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics RCV000941018 SCV002800344 likely benign Wilson disease 2021-08-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000941018 SCV004828651 likely benign Wilson disease 2023-12-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV000941018 SCV001456184 uncertain significance Wilson disease 2020-04-15 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.