ClinVar Miner

Submissions for variant NM_016529.6(ATP8A2):c.2384+55C>T

gnomAD frequency: 0.86506  dbSNP: rs2296003
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554202 SCV001775422 benign Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707657 SCV005233895 benign not provided criteria provided, single submitter not provided

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