ClinVar Miner

Submissions for variant NM_000161.3(GCH1):c.344-16715G>A

dbSNP: rs11158026
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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 RCV001521892 SCV001731311 benign Dystonia 5; GTP cyclohydrolase I deficiency 2024-02-01 criteria provided, single submitter clinical testing

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