ClinVar Miner

Variants studied for cerebral cavernous malformation

Included ClinVar conditions (8):
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
398 50 256 167 62 24 920

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KRIT1 250 28 140 90 26 5 515
CCM2 70 14 56 52 25 8 217
PDCD10 66 6 30 21 5 10 134
PIK3CA 0 0 14 0 0 0 14
ANKIB1, KRIT1, LOC113748416 0 0 4 2 2 0 8
CCM2, LOC129998395 5 2 0 1 0 1 8
KRIT1, LOC113748416 0 0 5 0 1 0 6
MAP3K3 0 0 4 0 0 0 4
PDCD10, SERPINI1 1 0 0 1 1 0 3
CCM2, LOC132090779 1 0 0 0 1 0 2
LOC129937857, PDCD10 0 0 2 0 0 0 2
ADCY1, CCDC201, CCM2, IGFBP1, IGFBP3, LOC102723446, LOC105375266, LOC108281173, LOC121740680, LOC121740681, LOC123956143, LOC126860021, LOC126860022, LOC129389790, LOC129998399, LOC129998400, LOC129998401, LOC129998402, LOC129998403, LOC129998404, LOC132089545, LOC132090779, LOC730234, NACAD, RAMP3, SNORA5A, SNORA5B, SNORA5C, TBRG4 1 0 0 0 0 0 1
AKAP9, ANKIB1, CYP51A1, KRIT1, LRRD1 1 0 0 0 0 0 1
AKAP9, CYP51A1, KRIT1, LRRD1, MTERF1 1 0 0 0 0 0 1
CCM2, LOC129998398, LOC132090779, NACAD 1 0 0 0 0 0 1
LOC129937855, PDCD10 1 0 0 0 0 0 1
LOC129937857, PDCD10, SERPINI1 0 0 1 0 0 0 1
NOTCH3 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 345 21 146 141 46 0 699
Illumina Laboratory Services, Illumina 1 0 68 26 15 0 110
OMIM 30 0 0 0 0 0 30
Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald 2 0 0 0 0 20 22
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 0 0 4 10 0 18
Fulgent Genetics, Fulgent Genetics 3 0 13 1 0 0 17
Baylor Genetics 3 2 6 0 0 0 11
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 9 0 0 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 10 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 2 5 1 1 0 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 1 5 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 1 1 0 0 0 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 0 0 6 0 8
Revvity Omics, Revvity 1 4 2 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 0 3 0 0 0 7
Laboratory of Medical Genetics, University of Torino 5 1 0 0 1 0 7
3billion 6 1 0 0 0 0 7
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 6 0 0 0 0 0 6
New York Genome Center 0 0 5 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 2 0 0 0 0 4
MGZ Medical Genetics Center 1 3 0 0 0 0 4
GeneReviews 1 0 0 0 0 3 4
Hehr Laboratory, Center for Human Genetics Regensburg 0 3 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 3 0 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 2 1 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Swedish Neurofibromatosis Center, Swedish Medical Center 0 1 0 0 0 0 1
Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin Children’s Hospital 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
Neurology, Zhongshan Hospital Affiliated to Xiamen University 1 0 0 0 0 0 1

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