ClinVar Miner

Submissions for variant NM_000161.3(GCH1):c.510-14T>A

gnomAD frequency: 0.00001  dbSNP: rs748309367
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002152569 SCV002415448 likely benign Dystonia 5; GTP cyclohydrolase I deficiency 2023-12-25 criteria provided, single submitter clinical testing

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