ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.1131A>G (p.Thr377=)

gnomAD frequency: 0.00009  dbSNP: rs143242360
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001084594 SCV000645392 likely benign Dystonia 12 2023-10-13 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000710698 SCV000840983 benign not provided 2018-05-01 criteria provided, single submitter clinical testing
GeneDx RCV000710698 SCV001764385 likely benign not provided 2021-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259994 SCV002539035 benign Alternating hemiplegia of childhood 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259995 SCV002539036 benign Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259996 SCV002539037 benign Developmental and epileptic encephalopathy 99 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001084594 SCV002539038 benign Dystonia 12 2021-12-05 criteria provided, single submitter clinical testing

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