ClinVar Miner

Submissions for variant NM_001080.3(ALDH5A1):c.*1267dup

gnomAD frequency: 0.00001  dbSNP: rs886061275
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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 RCV000368211 SCV000461851 uncertain significance Succinate-semialdehyde dehydrogenase deficiency 2016-06-14 criteria provided, single submitter clinical testing

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