ClinVar Miner

Variants studied for Paragangliomas 4

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 total
53 31 20 10 14 116

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SDHB 47 30 19 10 14 108
LOC129929542, SDHB 2 1 0 0 0 3
LOC129929541, SDHB 1 0 0 0 0 1
LOC129929542, LOC129929543, PADI2, SDHB 1 0 0 0 0 1
LOC129929542, LOC129929543, SDHB 1 0 0 0 0 1
SDHA 0 0 1 0 0 1
SDHD 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Myriad Genetics, Inc. 30 16 5 0 1 52
Color Diagnostics, LLC DBA Color Health 7 2 1 2 11 23
OMIM 16 0 0 0 0 16
Counsyl 1 2 5 5 1 14
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 2 0 3 6 11
Center for Human Genetics, Inc, Center for Human Genetics, Inc 8 1 1 0 0 10
MGZ Medical Genetics Center 5 1 0 0 0 6
Baylor Genetics 0 0 4 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 1 0 0 4
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 4 0 0 4
Labcorp Genetics (formerly Invitae), Labcorp 2 1 0 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 1 0 0 0 3
Institute of Human Genetics, University Hospital of Duesseldorf 1 1 1 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 2 0 1 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 1 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 2
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
3billion, Medical Genetics 1 0 1 0 0 2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Mendelics 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 1
deCODE genetics, Amgen 0 1 0 0 0 1
Division of Medical Genetics, University of Washington 1 0 0 0 0 1
New York Genome Center 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1

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