ClinVar Miner

Submissions for variant NM_016529.6(ATP8A2):c.2896A>G (p.Ile966Val)

gnomAD frequency: 0.00013  dbSNP: rs202061089
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001291767 SCV001480384 uncertain significance Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 2020-05-01 criteria provided, single submitter clinical testing
Invitae RCV003106183 SCV003780893 likely benign not provided 2023-12-27 criteria provided, single submitter clinical testing

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