ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.2748C>T (p.Ile916=)

gnomAD frequency: 0.00001  dbSNP: rs782390447
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001786251 SCV002028168 likely benign not provided 2021-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074084 SCV002485897 likely benign Dystonia 12 2024-09-17 criteria provided, single submitter clinical testing

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