ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.13-11_13-8del

dbSNP: rs373796693
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152809 SCV000202203 benign not specified 2014-03-17 criteria provided, single submitter clinical testing
GeneDx RCV000152809 SCV000240350 benign not specified 2013-06-13 criteria provided, single submitter clinical testing The variant is found in EPILEPSY panel(s).
PreventionGenetics, part of Exact Sciences RCV000152809 SCV000305425 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000298456 SCV000349864 benign Familial hemiplegic migraine 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000353455 SCV000349865 benign Alternating hemiplegia of childhood 2016-06-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554190 SCV001775407 benign Alternating hemiplegia of childhood 1 2021-07-14 criteria provided, single submitter clinical testing
Invitae RCV000298456 SCV002410439 benign Familial hemiplegic migraine 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259705 SCV002539927 benign Developmental and epileptic encephalopathy 98 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259704 SCV002539928 benign Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259703 SCV002539930 benign Migraine, familial hemiplegic, 2 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.