ClinVar Miner

Submissions for variant NM_016529.6(ATP8A2):c.3469+1G>C

dbSNP: rs763272441
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330941 SCV001522800 likely pathogenic Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 2019-08-06 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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