ClinVar Miner

Variants studied for melanocytic nevus

Included ClinVar conditions (30):
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
66 23 124 48 80 8 336

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KRT4 3 0 24 16 42 0 84
KRT13 2 0 17 6 35 0 60
NSDHL 10 5 25 11 2 4 54
PIK3CA 14 7 17 0 0 3 35
FGFR3 13 0 13 5 1 0 32
HRAS, LRRC56 9 5 12 4 0 1 28
KRAS 5 1 13 6 0 0 25
NRAS 5 0 1 0 0 0 6
NEK9 3 0 0 0 0 0 3
PIK3R1 0 3 0 0 0 0 3
​intergenic 1 0 1 0 0 0 2
ACTB 0 0 1 0 0 0 1
COL7A1 0 1 0 0 0 0 1
GNA11 1 0 0 0 0 0 1
TBX5 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 41 20 75 0 136
Fulgent Genetics, Fulgent Genetics 20 0 74 25 1 0 120
OMIM 33 0 0 0 0 0 33
Juno Genomics, Hangzhou Juno Genomics, Inc 6 2 3 0 0 0 11
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 9 0 0 0 0 0 9
GeneReviews 1 0 0 0 0 7 8
Genetic Services Laboratory, University of Chicago 4 3 0 0 0 0 7
Clinical Genomics Laboratory, Washington University in St. Louis 4 2 0 0 0 0 6
Genome-Nilou Lab 0 0 0 0 6 0 6
Solve-RD Consortium 0 4 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 1 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 1 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 2
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
3billion, Medical Genetics 1 0 0 1 0 0 2
Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School 0 2 0 0 0 0 2
Institute of Tissue Medicine and Pathology, University of Bern 0 2 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Medical Genetics Laboratory, Aldo Moro University of Bari 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 1

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