ClinVar Miner

Submissions for variant NM_000161.3(GCH1):c.*1056_*1057insAT

gnomAD frequency: 0.04397  dbSNP: rs144676716
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000391286 SCV000387072 benign GTP cyclohydrolase I deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000306109 SCV000387073 benign Dopa-responsive dystonia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001642975 SCV001855984 benign not provided 2018-07-05 criteria provided, single submitter clinical testing

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