ClinVar Miner

Variants studied for Classic homocystinuria

Coded as:
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
73 144 175 36 23 6 393

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CBS 73 143 175 36 23 6 392
LOC126859690, PKHD1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
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 5 2 50 11 16 0 84
Fulgent Genetics, Fulgent Genetics 11 4 22 3 2 0 42
Myriad Genetics, Inc. 4 16 2 0 0 0 22
Revvity Omics, Revvity 12 3 6 0 0 0 21
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 6 7 0 0 0 0 13
Genome-Nilou Lab 1 0 7 0 3 0 11
Labcorp Genetics (formerly Invitae), Labcorp 3 1 6 0 0 0 10
Child Health and Human Development Program, Research Institute of the McGill University Health Center 9 0 0 0 0 0 9
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
3billion, Medical Genetics 2 2 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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 0 0 0 0 0 4
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 2 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
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 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
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
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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 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
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
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

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