ClinVar Miner

Submissions for variant NM_016529.6(ATP8A2):c.2212-1G>C

dbSNP: rs2137911082
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001780686 SCV002022072 pathogenic Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 2020-02-03 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001780686 SCV005038805 pathogenic Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 2024-03-14 criteria provided, single submitter clinical testing

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