ClinVar Miner

Submissions for variant NM_000161.3(GCH1):c.704G>A (p.Arg235Gln)

dbSNP: rs1555358380
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000626048 SCV000746668 uncertain significance Dystonia 5 2017-01-17 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000626048 SCV001934516 uncertain significance Dystonia 5 2020-09-10 criteria provided, single submitter clinical testing This variant was identified as homozygous.

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