ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.13-22T>C

gnomAD frequency: 0.99954  dbSNP: rs2854246
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000829901 SCV000971633 benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001554189 SCV001775406 benign Alternating hemiplegia of childhood 1 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260047 SCV002539924 benign Developmental and epileptic encephalopathy 98 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260046 SCV002539925 benign Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260045 SCV002539926 benign Migraine, familial hemiplegic, 2 2021-12-05 criteria provided, single submitter clinical testing

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