ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.382-85G>A

gnomAD frequency: 0.09102  dbSNP: rs41265763
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001680675 SCV001899231 benign not provided 2018-06-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260312 SCV002539702 benign Alternating hemiplegia of childhood 1 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260314 SCV002539703 benign Developmental and epileptic encephalopathy 98 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260313 SCV002539704 benign Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260311 SCV002539705 benign Migraine, familial hemiplegic, 2 2021-12-05 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004598101 SCV005091834 benign not specified 2024-07-31 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 20% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy, Progressive Myoclonus Epilepsy and Abnormal Movements and Neurodegeneration with brain iron accumulation. Number of patients: 19. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001680675 SCV005282974 benign not provided criteria provided, single submitter not provided

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