ClinVar Miner

Variants studied for paragangliomas 4

Included ClinVar conditions (5):
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
182 67 542 353 20 1 1136

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SDHB 167 66 511 318 20 1 1054
LOC129929542, SDHB 6 1 27 26 0 0 60
LOC129929541, SDHB 3 0 1 9 0 0 13
LOC129929541, LOC129929542, SDHB 2 0 2 0 0 0 4
LOC129929542, LOC129929543, SDHB 2 0 0 0 0 0 2
LOC129929541, LOC129929542, LOC129929543, PADI2, SDHB 1 0 0 0 0 0 1
LOC129929542, LOC129929543, PADI2, SDHB 1 0 0 0 0 0 1
SDHA 0 0 1 0 0 0 1
SDHD 1 0 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 not provided total
Labcorp Genetics (formerly Invitae), Labcorp 172 44 536 346 18 0 1116
Myriad Genetics, Inc. 29 14 5 0 1 0 49
Color Diagnostics, LLC DBA Color Health 7 2 1 2 11 0 23
OMIM 16 0 0 0 0 0 16
Fulgent Genetics, Fulgent Genetics 6 0 6 4 0 0 16
Counsyl 1 2 5 5 1 0 14
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 2 0 3 6 0 11
Center for Human Genetics, Inc, Center for Human Genetics, Inc 8 1 1 0 0 0 10
MGZ Medical Genetics Center 5 1 0 0 0 0 6
Baylor Genetics 0 0 4 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 1 0 0 0 4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 1 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 2 0 1 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 1 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 1 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 2
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 2 0 0 0 0 0 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 2 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
3billion 1 0 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 0 2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
deCODE genetics, Amgen 0 1 0 0 0 0 1
Division of Medical Genetics, University of Washington 1 0 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1

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