ClinVar Miner

Variants studied for GTP cyclohydrolase I deficiency

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
50 7 85 22 31 169

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GCH1 50 6 84 22 31 167
GCH1, MIR4308 0 0 1 0 0 1
TH 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 32 4 33 11 3 83
Illumina Clinical Services Laboratory,Illumina 0 0 50 13 29 75
OMIM 17 0 0 0 0 17
Mendelics 2 0 1 0 2 5
Elsea Laboratory,Baylor College of Medicine 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
National Reference Laboratory of Biochemistry,Pasteur Institute of Iran 1 0 0 0 0 1
NxGen MDx 0 1 0 0 0 1
Department of Medical Laboratory,Affiliated Hospital of Southwest Medical University 1 0 0 0 0 1

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