ClinVar Miner

Submissions for variant NM_016529.6(ATP8A2):c.2473G>C (p.Asp825His)

dbSNP: rs796952533
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Laboratory, Tarbiat Modares University RCV001250917 SCV001156242 uncertain significance Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 no assertion criteria provided research

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