ClinVar Miner

Variants studied for Glycine encephalopathy

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 not provided total
456 403 1000 1531 90 9 3210

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 not provided total
GLDC 352 311 724 1156 65 5 2410
AMT 79 81 193 329 13 4 635
AMT, NICN1 15 9 36 26 2 0 78
GCSH 4 1 22 11 6 0 43
GCSH, LOC130059495 0 1 19 9 4 0 32
GLDC, LOC113839554, LOC126860573, LOC130001537 3 0 0 0 0 0 3
GLDC, LOC130001538 1 0 1 0 0 0 2
GLDC, LOC130001539 0 0 2 0 0 0 2
AMT, GPX1, NICN1, RHOA, TCTA 0 0 1 0 0 0 1
GLDC, KDM4C, LOC111413010, LOC130001538, LOC130001539, LOC130001540, LOC130001541, LOC130001542, LOC130001543, LOC130001544, LOC130001545, MAHAC 0 0 1 0 0 0 1
GLDC, LOC113839554, LOC126860573, LOC130001537, LOC130001538 1 0 0 0 0 0 1
GLDC, LOC113839554, LOC130001537, LOC130001538 0 0 1 0 0 0 1
GLDC, LOC130001537 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 428 122 734 1497 71 0 2852
Natera, Inc. 63 96 297 42 35 0 533
Illumina Laboratory Services, Illumina 3 0 107 24 24 0 158
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 95 0 0 0 0 96
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 50 35 0 0 0 0 85
Myriad Genetics, Inc. 2 56 4 0 0 0 62
Fulgent Genetics, Fulgent Genetics 4 9 24 5 2 0 44
Baylor Genetics 11 18 7 0 0 0 36
Genome-Nilou Lab 0 1 1 1 14 0 17
3billion 3 2 8 0 0 0 13
Mendelics 6 3 0 2 1 0 12
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 7 0 0 0 0 12
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 0 2 4 0 7
GeneReviews 2 0 0 0 0 4 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 2 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 2 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 1 1 0 0 4
Department of Genetics, Sultan Qaboos University Hospital 2 0 2 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 4
Elsea Laboratory, Baylor College of Medicine 0 0 4 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 2 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 2 0 0 0 0 4
New York Genome Center 0 1 3 0 0 0 4
Ege University Pediatric Genetics, Ege University 1 0 2 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 1 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 2 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 1 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 2 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 1 1 0 0 0 0 2
Suma Genomics 0 1 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 0 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 1 0 0 0 0 1
Dasa 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Institute of Pediatric Research, Children's Hospital of Soochow University, Soochow University 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
OMIM 0 0 1 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1

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