ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.858C>T (p.Thr286=)

gnomAD frequency: 0.00005  dbSNP: rs368998149
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 RCV000644934 SCV000766657 likely benign Dystonia 12 2023-09-04 criteria provided, single submitter clinical testing
GeneDx RCV001561391 SCV001783991 likely benign not provided 2018-09-18 criteria provided, single submitter clinical testing

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