ClinVar Miner

Variants studied for Non-ketotic hyperglycinemia

Coded as:
Minimum submission review status: Collection method:
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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 not provided total
393 372 923 1454 90 7 2950

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GLDC 296 281 655 1093 65 4 2186
AMT 74 81 186 317 13 3 606
AMT, NICN1 14 8 37 23 2 0 73
GCSH 5 1 20 11 6 0 42
GCSH, LOC130059495 0 1 19 9 4 0 32
GLDC, LOC130001539 0 0 2 1 0 0 3
GLDC, LOC113839554, LOC126860573, LOC130001537 2 0 0 0 0 0 2
GLDC, LOC130001538 1 0 1 0 0 0 2
AMT, GPX1, NICN1, RHOA, TCTA 0 0 1 0 0 0 1
GLDC, KDM4C, LINC02851, LOC111413010, LOC130001538, LOC130001539, LOC130001540, LOC130001541, LOC130001542, LOC130001543, LOC130001544, LOC130001545 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

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 377 112 721 1417 71 0 2698
Natera, Inc. 34 4 175 42 35 0 290
Illumina Laboratory Services, Illumina 3 0 112 26 25 0 166
Counsyl 11 60 68 4 0 0 143
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 95 0 0 0 0 96
Myriad Genetics, Inc. 2 56 4 0 0 0 62
Fulgent Genetics, Fulgent Genetics 8 14 24 5 2 0 53
Baylor Genetics 20 25 7 0 0 0 52
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 28 17 0 0 0 0 45
Revvity Omics, Revvity 12 9 5 0 0 0 26
Genome-Nilou Lab 0 1 1 1 14 0 17
Mendelics 6 3 1 2 1 0 13
3billion 3 2 8 0 0 0 13
OMIM 11 0 0 0 0 0 11
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 7 0 0 0 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 0 2 4 0 7
GeneReviews 2 0 0 0 0 4 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 2 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 2 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 2 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 2 0 0 0 0 4
Elsea Laboratory, Baylor College of Medicine 0 0 4 0 0 0 4
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, Sultan Qaboos University 2 0 2 0 0 0 4
New York Genome Center 0 1 3 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 2 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 1 0 0 3
Ege University Pediatric Genetics, Ege University 1 0 2 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 2
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
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 AG - the Rare Disease Company 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 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
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 0 1
Institute of Pediatric Research, Children's Hospital of Soochow University, Soochow University 0 1 0 0 0 0 1
DASA 0 1 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 1

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