ClinVar Miner

Variants studied for metabolic disease involving other neurotransmitter deficiency

Included ClinVar conditions (8):
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 risk factor not provided total
174 124 914 842 145 1 7 2123

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
SLC6A5 43 24 289 348 42 0 1 731
GLRA1 64 26 227 171 23 0 2 485
GLRB 18 4 175 160 44 0 0 390
ARHGEF9 29 13 155 158 31 0 1 379
BCHE 15 55 54 2 4 1 2 115
ATAD1 3 2 5 1 0 0 0 9
GPHN 1 0 4 2 0 0 0 6
BCHE, LOC121048721 0 0 1 0 1 0 0 2
GLRA1, LOC123575602 1 0 1 0 0 0 0 2
AMER1, ARHGEF9 0 0 1 0 0 0 0 1
AMER1, ARHGEF9, ASB12, MTMR8, ZC4H2 0 0 1 0 0 0 0 1
ATOX1, FAT2, G3BP1, GLRA1, GM2A, SLC36A1, SLC36A2, SLC36A3, SPARC 0 0 1 0 0 0 0 1
CASK 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 75
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 113 32 784 828 98 0 0 1855
Illumina Laboratory Services, Illumina 2 2 74 9 63 0 0 150
Counsyl 2 39 15 0 1 0 0 57
OMIM 36 0 0 0 0 0 0 36
GeneReviews 34 0 0 0 0 0 1 35
Revvity Omics, Revvity 6 14 9 0 0 0 0 29
Fulgent Genetics, Fulgent Genetics 4 4 14 7 0 0 0 29
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 8 0 0 0 0 0 16
Baylor Genetics 2 2 9 0 0 0 0 13
Department of Pathology and Laboratory Medicine, Sinai Health System 1 7 4 0 0 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 4 1 1 0 0 0 10
Genome-Nilou Lab 0 0 0 0 10 0 0 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 6 0 0 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 3 1 5 0 0 0 0 9
Mendelics 3 0 0 1 3 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 3 1 3 0 0 0 0 7
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 2 0 0 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 1 4 0 0 0 0 0 5
New York Genome Center 1 0 4 0 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 3 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 0 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 2 0 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 1 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 2 0 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 1 1 0 0 3
3billion 0 2 1 0 0 0 0 3
MGZ Medical Genetics Center 1 0 1 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 1 0 1 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 1 0 0 0 2
Myriad Genetics, Inc. 0 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 0 1
ITMI 1 0 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Neurogenetics Lab, King Edward Memorial Hospital and Seth Gordhandas Sunderdas Medical College 0 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 0 1 0 1
Savagenome Genetic Health Clinic, Tarbiat Modares University 1 0 0 0 0 0 0 1
Department of Medical Genomics, Royal Prince Alfred Hospital 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
DASA 1 0 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 1 0 0 0 0 0 1
Department of Neurology, Zibo Changguo Hospital 1 0 0 0 0 0 0 1

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