ClinVar Miner

Submissions for variant NM_000161.3(GCH1):c.551G>A (p.Arg184His) (rs104894445)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
National Reference Laboratory of Biochemistry,Pasteur Institute of Iran RCV000009873 SCV000575877 pathogenic GTP cyclohydrolase I deficiency 2014-12-30 criteria provided, single submitter research
OMIM RCV000009873 SCV000030094 pathogenic GTP cyclohydrolase I deficiency 1995-04-28 no assertion criteria provided literature only

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