ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.1825G>T (p.Asp609Tyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001004770 SCV001164250 pathogenic Alternating hemiplegia of childhood 2 2021-09-17 criteria provided, single submitter clinical testing This variant was foun de novo in a patient with Alternating hemiplegia of childhood. It was found independantly in another patient with the same phenotype.
Institute of Human Genetics, University of Leipzig Medical Center RCV001004770 SCV001428619 uncertain significance Alternating hemiplegia of childhood 2 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as de novo.

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