ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.1388G>A (p.Arg463His)

gnomAD frequency: 0.00001  dbSNP: rs782499746
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000559746 SCV000645394 likely benign Dystonia 12 2023-11-24 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004791554 SCV005408848 uncertain significance not provided 2024-08-15 criteria provided, single submitter clinical testing BS2, PP2

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