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
50 74 165 114 50 2 381

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Homocystinuria due to CBS deficiency 25 67 90 41 16 1 218
not specified 1 0 8 60 39 0 105
not provided 32 9 52 2 5 1 97
Cardiovascular phenotype 8 0 23 35 7 0 73
Homocystinuria 13 4 28 6 7 0 58
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
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 27 8 37 56 30 0 158
Invitae 18 5 66 36 14 0 139
Counsyl 9 61 20 1 0 0 91
Ambry Genetics 8 0 23 35 7 0 73
Illumina Clinical Services Laboratory,Illumina 4 2 32 6 7 0 51
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 14 0 20 2 13 0 49
Integrated Genetics/Laboratory Corporation of America 13 4 2 0 2 0 21
OMIM 16 0 0 0 1 0 17
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 1 5 3 7 0 17
Fulgent Genetics 6 2 5 0 0 0 13
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 1 7 0 10
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
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, Inc. 0 0 1 0 0 0 1
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 1 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 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
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1

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