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
101 101 98 86 15 329

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 96 99 84 70 11 299
not provided 24 9 20 14 4 68
not specified 0 0 1 19 4 24
Intellectual disability 0 0 0 3 0 3
See cases 0 0 0 1 1 2
Glutaric acidemia 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 77 25 28 68 7 205
Counsyl 5 49 28 4 0 86
GeneDx 13 7 1 19 2 42
Natera, Inc. 13 1 10 4 2 30
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 12 1 14 1 2 30
Illumina Clinical Services Laboratory,Illumina 6 0 21 1 2 30
Integrated Genetics/Laboratory Corporation of America 12 5 0 0 1 18
National Institute of Mental Health and Neurosciences 8 5 1 0 2 16
Myriad Women's Health, Inc. 2 9 0 0 0 11
GeneReviews 10 0 0 0 0 10
Fulgent Genetics,Fulgent Genetics 5 5 0 0 0 10
Baylor Genetics 8 0 0 0 0 8
OMIM 7 0 0 0 0 7
Mendelics 3 2 0 0 1 6
CeGaT Praxis fuer Humangenetik Tuebingen 3 1 0 2 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 3 0 2 0 0 5
PreventionGenetics, PreventionGenetics 0 0 0 1 3 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 2 1 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 2 1 3
Institute of Human Genetics, Klinikum rechts der Isar 3 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 3 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 3 0 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 0 0 0 2
Kasturba Medical College, Manipal University 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 0 0 1 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 0 0 0 1

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