ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.1218C>T (p.His406=)

gnomAD frequency: 0.00001  dbSNP: rs1238469762
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 RCV002213746 SCV002495627 likely benign Dystonia 12 2022-07-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496139 SCV002797471 likely benign Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Dystonia 12; Alternating hemiplegia of childhood 2; Developmental and epileptic encephalopathy 99 2021-10-13 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.