ClinVar Miner

Variants in gene combination GCH1, LOC130055692

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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
11 3 34 28 8 79

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Dystonia 5; GTP cyclohydrolase I deficiency 8 0 23 22 3 55
not provided 1 2 10 6 5 23
GTP cyclohydrolase I deficiency 1 0 6 2 5 14
Dystonia 5 2 0 5 1 5 13
Dystonia 5; GTP cyclohydrolase I deficiency with hyperphenylalaninemia 0 1 2 0 0 3
GCH1-related disorder 0 0 1 1 1 3
Inborn genetic diseases 0 0 3 0 0 3
Dopa-responsive dystonia 0 0 1 1 0 2
not specified 0 0 0 1 1 2

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 8 0 22 22 3 55
GeneDx 1 1 5 2 5 14
Illumina Laboratory Services, Illumina 0 0 6 2 5 13
CeGaT Center for Human Genetics Tuebingen 0 0 1 4 0 5
Athena Diagnostics 0 1 1 0 2 4
PreventionGenetics, part of Exact Sciences 0 0 1 1 2 4
Breakthrough Genomics, Breakthrough Genomics 0 0 1 0 3 4
Ambry Genetics 0 0 3 0 0 3
OMIM 2 0 0 0 0 2
Mendelics 1 0 0 0 1 2
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Elsea Laboratory, Baylor College of Medicine 0 0 1 0 0 1
Clinical Genetics, Academic Medical Center 0 0 0 1 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 1

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