ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.178-21C>T

gnomAD frequency: 0.00076  dbSNP: rs199660548
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001560923 SCV001783425 likely benign not provided 2018-07-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260202 SCV002539683 benign Alternating hemiplegia of childhood 1 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260204 SCV002539685 benign Developmental and epileptic encephalopathy 98 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260203 SCV002539686 benign Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260201 SCV002539687 benign Migraine, familial hemiplegic, 2 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001560923 SCV005264263 likely benign not provided criteria provided, single submitter not provided

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