ClinVar Miner

Submissions for variant NM_016529.6(ATP8A2):c.2749A>G (p.Asn917Asp)

dbSNP: rs1593410369
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985123 SCV001133104 likely pathogenic Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 2019-09-26 no assertion criteria provided clinical testing

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