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
397 46 250 167 62 24 911

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 249 25 137 90 26 5 509
CCM2 70 13 53 52 25 8 214
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: 49
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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
Fulgent Genetics, Fulgent Genetics 3 0 13 1 0 0 17
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 0 0 3 10 0 16
Baylor Genetics 3 2 6 0 0 0 11
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 9 0 0 0 10
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
Institute of Human Genetics, University of Leipzig Medical Center 2 4 1 1 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
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
3billion, Medical Genetics 5 0 0 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
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
Molecular Genetics, Royal Melbourne Hospital 1 1 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
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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 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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