ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.1060G>A (p.Gly354Ser)

dbSNP: rs1564596167
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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 RCV000680016 SCV000807455 uncertain significance Generalized epilepsy-paroxysmal dyskinesia syndrome 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 15-year-old female with intellectual disability, hypotonia, progressive ataxia, epilepsy, vermis and cerebellar vermis atrophy, ADHD, scoliosis

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