ClinVar Miner

Variants in gene GCDH

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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
53 77 77 30 12 206

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Glutaric aciduria, type 1 45 74 53 6 7 157
not provided 23 8 19 4 4 55
not specified 0 0 1 22 4 27
Glutaric acidemia 0 0 7 0 1 8
Glutaricaciduria, type I 0 0 2 0 0 2
See cases 0 0 0 1 1 2

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 3 52 30 4 0 89
Invitae 27 9 18 1 4 59
GeneDx 13 6 1 23 2 45
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 12 1 14 1 2 30
National Institute of Mental Health and Neurosciences 8 5 1 0 2 16
Illumina Clinical Services Laboratory,Illumina 6 0 8 0 1 15
Integrated Genetics/Laboratory Corporation of America 10 3 0 0 1 14
Fulgent Genetics,Fulgent Genetics 5 5 0 0 0 10
OMIM 7 0 0 0 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 3 0 2 0 0 5
PreventionGenetics 0 0 0 1 3 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 2 1 0 0 4
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 0 2 1 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 2 1 3
Gharavi Laboratory,Columbia University 0 0 3 0 0 3
Department of Biotechnology and Microbiology,Karnatak University Dharwad 0 2 1 0 0 3
ISCA site 6 0 0 0 1 1 2
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 2 0 0 0 2
Ege University Pediatric Genetics,Ege University 0 0 2 0 0 2
TIDEX, University of British Columbia 0 1 1 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 2 0 0 2
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 0 0 1

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