ClinVar Miner

Submissions for variant NM_000161.3(GCH1):c.27G>C (p.Pro9=)

dbSNP: rs1361472755
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002185067 SCV002346920 likely benign Dystonia 5; GTP cyclohydrolase I deficiency 2023-09-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003395373 SCV004134145 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing GCH1: PM2:Supporting, BP4, BP7

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