ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.2886C>T (p.Pro962=)

gnomAD frequency: 0.00006  dbSNP: rs141412861
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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 RCV000540448 SCV000645410 likely benign Dystonia 12 2023-12-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001662572 SCV001880737 benign not specified 2021-03-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260005 SCV002539979 benign Alternating hemiplegia of childhood 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260006 SCV002539980 benign Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260007 SCV002539981 benign Developmental and epileptic encephalopathy 99 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000540448 SCV002539982 benign Dystonia 12 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003409798 SCV004143846 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing ATP1A3: BP4, BP7

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