ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.1503C>T (p.Pro501=)

gnomAD frequency: 0.00027  dbSNP: rs143904999
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000862788 SCV001003340 likely benign Dystonia 12 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001585808 SCV001813687 likely benign not provided 2020-07-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487891 SCV002797187 likely benign Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Dystonia 12; Alternating hemiplegia of childhood 2; Developmental and epileptic encephalopathy 99 2022-03-17 criteria provided, single submitter clinical testing

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