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
67 77 207 173 81 3 512

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Classic homocystinuria 46 70 156 82 30 2 335
not provided 33 9 55 45 24 1 164
not specified 2 0 9 63 41 0 110
Cardiovascular phenotype 7 0 24 35 7 0 73
Homocystinuria 13 4 3 0 1 0 21
Homocystinuria, pyridoxine-responsive 11 0 0 0 0 0 11
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 5 0 0 0 0 0 5
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: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 41 7 91 95 18 0 252
GeneDx 27 8 37 74 50 0 196
Counsyl 9 62 20 1 0 0 92
Illumina Clinical Services Laboratory,Illumina 4 2 54 11 17 0 88
Ambry Genetics 7 0 24 35 7 0 73
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 14 0 20 2 13 0 49
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 1 6 6 10 0 25
Integrated Genetics/Laboratory Corporation of America 13 4 2 0 2 0 21
OMIM 16 0 0 0 1 0 17
Fulgent Genetics,Fulgent Genetics 6 2 5 0 0 0 13
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 0 0 1 7 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 3 0 5 0 0 0 8
Baylor Genetics 5 0 0 0 0 0 5
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
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 2 2 0 4
Myriad Women's Health, Inc. 3 1 0 0 0 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
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
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 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
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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies 0 0 0 0 0 1 1

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