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
45 21 18 10 14 101

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SDHB 39 20 18 10 14 94
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
SDHD 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Myriad Genetics, Inc. 15 8 5 0 1 29
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
Invitae 2 1 0 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
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 0 0 0 0 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
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 2 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
3billion 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
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
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 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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