ClinVar Miner

Variants studied for cerebral cavernous malformation

Included ClinVar conditions (6):
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
347 40 202 139 60 24 779

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KRIT1 218 22 120 76 24 5 443
CCM2 61 12 42 45 25 8 186
PDCD10 58 5 26 15 5 10 116
ANKIB1, KRIT1, LOC113748416 0 0 4 2 2 0 8
CCM2, LOC129998395 5 1 1 0 0 1 7
KRIT1, LOC113748416 0 0 5 0 1 0 6
CCM2, LOC132090779 1 0 0 0 1 0 2
LOC129937857, PDCD10 0 0 2 0 0 0 2
PDCD10, SERPINI1 0 0 0 1 1 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
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
PIK3CA 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 299 17 119 113 44 0 592
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 3 0 0 3 10 0 16
Baylor Genetics 3 2 4 0 0 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 1 5 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 1 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 3 1 1 0 0 5
3billion 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
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 4 0 0 0 0 0 4
New York Genome Center 0 0 4 0 0 0 4
Hehr Laboratory, Center for Human Genetics Regensburg 0 3 0 0 0 0 3
Fulgent Genetics, Fulgent Genetics 2 0 0 1 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 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
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 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
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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

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