ClinVar Miner

Variants studied for multiple endocrine neoplasia type 2

Included ClinVar conditions (20):
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
91 41 1743 1322 290 7 3167

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RET 89 36 1688 1295 285 7 3078
LOC106736614, RET 0 2 31 10 0 0 41
LOC130003710, RET 0 0 4 15 2 0 19
NTRK1 2 1 13 0 0 0 16
LOC110121502, MCS+9.7, RET 0 1 0 1 3 0 4
INSRR, NTRK1 0 0 3 0 0 0 3
LOC106736614, LOC110121502, LOC130003705, LOC130003706, LOC130003707, LOC130003708, LOC130003709, LOC130003710, MCS+9.7, RET 0 0 2 0 0 0 2
ALK 0 0 0 1 0 0 1
ESR2, LOC130055821 0 0 1 0 0 0 1
KIF1B 0 1 0 0 0 0 1
SDHA 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 60
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 78 13 1574 1189 63 0 2917
All of Us Research Program, National Institutes of Health 12 7 449 219 4 0 691
Myriad Genetics, Inc. 23 6 20 117 228 0 394
Fulgent Genetics, Fulgent Genetics 5 5 249 62 2 0 323
Counsyl 7 2 84 45 6 0 144
Color Diagnostics, LLC DBA Color Health 4 6 26 32 19 0 87
Mendelics 2 0 53 13 10 0 78
Department of Pathology and Laboratory Medicine, Sinai Health System 6 8 9 6 10 0 39
KCCC/NGS Laboratory, Kuwait Cancer Control Center 4 0 2 12 21 0 39
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 32 2 0 0 34
OMIM 29 0 1 0 0 0 30
Genetics and Molecular Pathology, SA Pathology 2 0 5 0 9 0 16
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 12 0 2 0 1 0 15
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) 7 2 3 1 0 0 13
Baylor Genetics 1 0 11 0 0 0 12
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 7 0 0 0 0 0 7
MGZ Medical Genetics Center 4 1 2 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 3 0 1 2 0 0 6
Center for Human Genetics, Inc, Center for Human Genetics, Inc 3 0 2 0 0 0 5
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 3 2 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 3 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 4 0 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 3 0 1 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Juno Genomics, Hangzhou Juno Genomics, Inc 3 0 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 0 2 0 0 0 3
CSER _CC_NCGL, University of Washington 1 0 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 0 0 0 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 2 0 0 0 0 0 2
Division of Medical Genetics, Azienda Ospedaliero-Universitaria Policlinico S. Orsola-Malpighi 0 2 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 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 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1

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