ClinVar Miner

Variants studied for multiple endocrine neoplasia type 2A

Included ClinVar conditions (10):
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
38 26 224 117 33 7 392

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 not provided total
RET 38 25 220 114 33 7 384
LOC106736614, RET 0 0 3 1 0 0 4
ALK 0 0 0 1 0 0 1
KIF1B 0 1 0 0 0 0 1
LOC110121502, MCS+9.7, RET 0 0 0 1 0 0 1
SDHA 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 5 1 132 55 2 0 195
Counsyl 7 2 84 45 6 0 144
Myriad Genetics, Inc. 19 5 30 14 9 0 77
Mendelics 2 0 39 13 10 0 64
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 19 1 0 0 20
OMIM 18 0 0 0 0 0 18
Database of Curated Mutations (DoCM) 0 14 0 0 0 0 14
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) 6 1 3 1 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 0 2 0 1 0 8
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 5 0 7
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
Genome-Nilou Lab 0 0 0 0 5 0 5
MGZ Medical Genetics Center 2 0 2 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 3 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 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
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 1
Division of Medical Genetics, Azienda Ospedaliero-Universitaria Policlinico S. Orsola-Malpighi 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 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
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 0 0 0 1

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