ClinVar Miner

Submissions for variant NM_000161.3(GCH1):c.211C>T (p.Leu71=)

gnomAD frequency: 0.00227  dbSNP: rs141883031
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244528 SCV000302760 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000862150 SCV001002611 benign Dystonia 5; GTP cyclohydrolase I deficiency 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001668413 SCV001883833 likely benign not provided 2020-08-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001668413 SCV004134144 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing GCH1: BP4, BP7

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