ClinVar Miner

Submissions for variant NM_001033044.4(GLUL):c.*2074dup

gnomAD frequency: 0.00052  dbSNP: rs111775366
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000377798 SCV000351557 uncertain significance Congenital brain dysgenesis due to glutamine synthetase deficiency 2016-06-14 criteria provided, single submitter clinical testing

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