ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.2224G>T (p.Asp742Tyr) (rs1135401822)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris RCV000496169 SCV000586795 likely pathogenic Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 2017-01-06 criteria provided, single submitter clinical testing convulsive encephalopathy; severe hypotonia; distal amyotrophy; stereotypies

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