ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.2527G>A (p.Ala843Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV004784871 SCV005397079 likely pathogenic Alternating hemiplegia of childhood 2 2024-10-14 criteria provided, single submitter clinical testing Criteria applied: PM2,PM5,PP2,PP3

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