ClinVar Miner

Submissions for variant NM_016529.6(ATP8A2):c.1185+71A>G

gnomAD frequency: 0.65665  dbSNP: rs7332442
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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 RCV001554198 SCV001775418 benign Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707656 SCV005233885 benign not provided criteria provided, single submitter not provided

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