ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.2532C>T (p.Tyr844=)

gnomAD frequency: 0.00001  dbSNP: rs782485793
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002204981 SCV002351627 likely benign Dystonia 12 2024-06-06 criteria provided, single submitter clinical testing

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