ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.1086C>T (p.Thr362=)

gnomAD frequency: 0.00007  dbSNP: rs186453162
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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 RCV000865709 SCV001006719 benign Dystonia 12 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001615064 SCV001841717 benign not provided 2021-05-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260090 SCV002539039 benign Alternating hemiplegia of childhood 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260091 SCV002539040 benign Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260092 SCV002539041 benign Developmental and epileptic encephalopathy 99 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000865709 SCV002539043 benign Dystonia 12 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001615064 SCV002822573 benign not provided 2022-11-01 criteria provided, single submitter clinical testing ATP1A3: BP4, BP7, BS1, BS2

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