ClinVar Miner

Submissions for variant NM_016529.6(ATP8A2):c.1665G>A (p.Met555Ile)

gnomAD frequency: 0.00001  dbSNP: rs1398724919
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001733691 SCV001984471 uncertain significance Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 2021-02-08 criteria provided, single submitter clinical testing

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