ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.63C>T (p.Asp21=)

gnomAD frequency: 0.00008  dbSNP: rs367930558
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001489691 SCV001694240 likely benign Dystonia 12 2024-09-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004550249 SCV004722671 likely benign ATP1A3-related disorder 2019-08-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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