ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.1260C>T (p.Arg420=)

gnomAD frequency: 0.00080  dbSNP: rs113909283
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000644937 SCV000766661 benign Dystonia 12 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV001662698 SCV001881232 benign not provided 2021-02-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260035 SCV002539013 benign Alternating hemiplegia of childhood 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260036 SCV002539014 benign Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260037 SCV002539015 benign Developmental and epileptic encephalopathy 99 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000644937 SCV002539016 benign Dystonia 12 2021-12-05 criteria provided, single submitter clinical testing

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