ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.1281G>A (p.Gln427=) (rs116979196)

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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 RCV000352996 SCV000413441 likely benign Dystonia 12 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394092 SCV000413442 likely benign Alternating hemiplegia of childhood 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000352996 SCV000766656 benign Dystonia 12 2017-10-21 criteria provided, single submitter clinical testing

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