ClinVar Miner

Variants in gene CBS

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 not provided total
172 218 405 659 118 7 1346

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 144 68 212 544 40 0 1006
Classic homocystinuria 72 143 173 36 23 6 390
not provided 45 30 103 114 65 1 335
Familial thoracic aortic aneurysm and aortic dissection 15 8 120 148 8 0 299
not specified 1 0 49 80 46 0 162
Homocystinuria 49 20 3 0 1 0 72
CBS-related disorder 11 7 5 29 1 0 53
Connective tissue disorder 1 0 7 1 3 0 12
Homocystinuria, pyridoxine-responsive 11 0 0 0 0 0 11
Cardiovascular phenotype 1 0 6 3 0 0 10
Intellectual disability 0 0 4 0 0 0 4
Homocystinuria, pyridoxine-nonresponsive 3 0 0 0 0 0 3
See cases 3 0 0 0 0 0 3
Abnormality of metabolism/homeostasis 0 1 0 0 0 0 1
CBS POLYMORPHISM 0 0 0 0 1 0 1
Hyperhomocysteinemia 1 0 0 0 0 0 1
Thoracic aortic aneurysm or dissection 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 84
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 143 69 216 545 40 0 1012
GeneDx 37 18 71 116 75 0 317
Ambry Genetics 16 8 123 151 8 0 306
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 49 19 44 39 8 0 159
Natera, Inc. 27 1 96 20 8 0 152
Baylor Genetics 52 59 1 0 0 0 112
Counsyl 6 59 20 1 0 0 86
Illumina Laboratory Services, Illumina 4 2 50 11 17 0 84
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 5 3 14 19 15 0 56
PreventionGenetics, part of Exact Sciences 11 7 5 30 3 0 56
CeGaT Center for Human Genetics Tuebingen 12 8 12 19 0 0 51
Eurofins Ntd Llc (ga) 14 0 20 2 13 0 49
Breakthrough Genomics, Breakthrough Genomics 0 0 2 14 27 0 43
Fulgent Genetics, Fulgent Genetics 11 4 22 3 2 0 42
Mayo Clinic Laboratories, Mayo Clinic 5 2 15 0 0 0 22
Myriad Genetics, Inc. 4 16 2 0 0 0 22
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 6 7 0 1 7 0 21
Revvity Omics, Revvity 12 3 6 0 0 0 21
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 3 6 9 0 18
OMIM 16 0 0 0 1 0 17
Genome Diagnostics Laboratory, The Hospital for Sick Children 1 0 7 1 3 0 12
Genome-Nilou Lab 1 0 7 0 3 0 11
Clinical Genetics, Academic Medical Center 1 0 0 2 7 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 3 0 6 0 0 0 9
Child Health and Human Development Program, Research Institute of the McGill University Health Center 9 0 0 0 0 0 9
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 5 2 0 8
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 3 4 0 8
Neuberg Centre For Genomic Medicine, NCGM 1 3 4 0 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 2 2 0 0 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 3 2 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 3 2 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 3 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 1 1 2 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 2 0 0 0 0 5
3billion 3 1 1 0 0 0 5
Mendelics 0 0 2 1 1 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 3 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 0 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 3 0 1 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 4 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 0 0 0 0 0 4
GeneReviews 0 0 0 0 0 3 3
Genetics and Molecular Pathology, SA Pathology 2 0 1 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 1 0 1 1 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 1 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 2 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 3 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 1 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 0 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 2 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 1 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 1 0 0 0 0 2
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 2 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 0 1
Blueprint Genetics 1 0 0 0 0 0 1
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 1 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
NxGen MDx 0 1 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 1 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Suma Genomics 0 1 0 0 0 0 1
DASA 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
NHS Central & South Genomic Laboratory Hub 1 0 0 0 0 0 1

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