ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.741G>C (p.Val247=)

gnomAD frequency: 0.00002  dbSNP: rs767234141
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 RCV000864894 SCV001005774 benign Dystonia 12 2023-11-18 criteria provided, single submitter clinical testing
GeneDx RCV001546669 SCV001766224 likely benign not provided 2020-10-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260084 SCV002539066 benign Alternating hemiplegia of childhood 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260085 SCV002539067 benign Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260086 SCV002539068 benign Developmental and epileptic encephalopathy 99 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000864894 SCV002539069 benign Dystonia 12 2021-12-05 criteria provided, single submitter 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.