ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=) (rs34578730)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000406176 SCV000336191 benign not specified 2015-10-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000145247 SCV000192304 uncertain significance Alternating hemiplegia of childhood 2 2014-06-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283640 SCV000413437 likely benign Dystonia 12 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338733 SCV000413438 likely benign Alternating hemiplegia of childhood 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000283640 SCV000556855 benign Dystonia 12 2018-01-03 criteria provided, single submitter clinical testing

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