ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.*1002_*1003insA

dbSNP: rs886059844
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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 RCV000260162 SCV000452283 uncertain significance Pyridoxine-dependent epilepsy 2016-06-14 criteria provided, single submitter clinical testing

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