ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2709+11C>T

gnomAD frequency: 0.00083  dbSNP: rs115441094
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123768 SCV000167111 benign not specified 2013-10-01 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 RCV002055426 SCV002438369 benign Familial hemiplegic migraine 2024-01-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259680 SCV002539839 benign Alternating hemiplegia of childhood 1 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259682 SCV002539841 benign Developmental and epileptic encephalopathy 98 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259681 SCV002539842 benign Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259679 SCV002539843 benign Migraine, familial hemiplegic, 2 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714475 SCV005282992 benign not provided criteria provided, single submitter not provided

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