ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2284+18G>T

gnomAD frequency: 0.00092  dbSNP: rs369835706
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123765 SCV000167108 benign not specified 2014-03-12 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002055425 SCV002410224 benign Familial hemiplegic migraine 2024-01-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259672 SCV002539822 benign Alternating hemiplegia of childhood 1 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259674 SCV002539823 benign Developmental and epileptic encephalopathy 98 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259673 SCV002539824 benign Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259671 SCV002539825 benign Migraine, familial hemiplegic, 2 2021-12-05 criteria provided, single submitter clinical testing

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