ClinVar Miner

Submissions for variant NM_000161.3(GCH1):c.732C>T (p.Phe244=)

dbSNP: rs745929907
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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 RCV001448648 SCV001651744 likely benign Dystonia 5; GTP cyclohydrolase I deficiency 2022-06-04 criteria provided, single submitter clinical testing

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