ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.1794C>T (p.Ser598=)

gnomAD frequency: 0.00001  dbSNP: rs782409824
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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 RCV000972169 SCV001119864 likely benign Dystonia 12 2024-09-21 criteria provided, single submitter clinical testing

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