ClinVar Miner

Submissions for variant NM_000161.3(GCH1):c.*155AATA[1]

dbSNP: rs752359690
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000365863 SCV000387100 uncertain significance Dopa-responsive dystonia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000271385 SCV000387101 uncertain significance GTP cyclohydrolase I deficiency 2016-06-14 criteria provided, single submitter clinical testing

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