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
90 89 243 216 81 3 607

Condition and significance breakdown #

Total conditions: 13
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Classic homocystinuria 72 81 200 141 30 2 461
not provided 34 11 58 48 24 1 173
not specified 1 0 8 61 40 0 107
Cardiovascular phenotype 7 0 24 35 7 0 73
Homocystinuria 27 7 3 0 1 0 38
none provided 1 1 4 5 8 0 19
Homocystinuria, pyridoxine-responsive 11 0 0 0 0 0 11
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 5 0 0 0 0 0 5
Intellectual disability 0 0 4 0 0 0 4
Homocystinuria, pyridoxine-nonresponsive 3 0 0 0 0 0 3
CYSTATHIONINE BETA-SYNTHETASE POLYMORPHISM 0 0 0 0 1 0 1
Hyperhomocysteinemia 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 65 14 126 141 18 0 364
GeneDx 27 8 37 74 50 0 196
Counsyl 6 61 20 1 0 0 88
Illumina Clinical Services Laboratory,Illumina 4 2 54 11 17 0 88
Natera, Inc. 15 1 44 9 7 0 76
Ambry Genetics 7 0 24 35 7 0 73
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 14 0 20 2 13 0 49
Integrated Genetics/Laboratory Corporation of America 27 6 2 0 5 0 40
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 2 9 9 12 0 34
OMIM 16 0 0 0 1 0 17
CeGaT Praxis fuer Humangenetik Tuebingen 3 1 6 4 0 0 14
Fulgent Genetics,Fulgent Genetics 6 2 5 0 0 0 13
Baylor Genetics 10 1 0 0 0 0 11
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 1 7 0 10
Myriad Women's Health, Inc. 3 6 0 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
Mendelics 0 0 2 1 1 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 2 1 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 0 0 0 0 4
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 2 2 0 4
PreventionGenetics, PreventionGenetics 0 0 0 1 2 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 1 0 3
SIB Swiss Institute of Bioinformatics 0 1 0 1 1 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 1 0 0 0 0 0 1
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
Blueprint Genetics 1 0 0 0 0 0 1
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 1 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
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 1 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.