ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.1134C>T (p.Val378=)

gnomAD frequency: 0.00004  dbSNP: rs180710845
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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 RCV000865212 SCV001006144 benign Dystonia 12 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001567533 SCV001791238 likely benign not provided 2021-06-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001567533 SCV001961826 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing ATP1A3: BP4, BP7
Genome-Nilou Lab RCV002260087 SCV002539030 benign Alternating hemiplegia of childhood 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260088 SCV002539032 benign Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260089 SCV002539033 benign Developmental and epileptic encephalopathy 99 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000865212 SCV002539034 benign Dystonia 12 2021-12-05 criteria provided, single submitter clinical testing

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