ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.36dup (p.Ala13fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005044314 SCV005681026 pathogenic Alternating hemiplegia of childhood 1; Migraine, familial hemiplegic, 2; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies; Developmental and epileptic encephalopathy 98 2024-01-03 criteria provided, single submitter clinical testing

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