ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.1011C>T (p.Thr337=) (rs782312004)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000273518 SCV000413445 uncertain significance Dystonia 12 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328686 SCV000413446 uncertain significance Alternating hemiplegia of childhood 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000273518 SCV000645390 likely benign Dystonia 12 2017-07-31 criteria provided, single submitter clinical testing

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