ClinVar Miner

Variants studied for cerebral cavernous malformation 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
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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
68 11 43 45 26 9 195

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CCM2 60 10 42 45 25 8 184
CCM2, LOC129998395 5 1 1 0 0 1 7
CCM2, LOC132090779 1 0 0 0 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
CCM2, LOC129998398, LOC132090779, NACAD 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 53 5 40 43 25 0 166
OMIM 15 0 0 0 0 0 15
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 3 10 0 14
Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald 0 0 0 0 0 8 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 4 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 4 0 4
Baylor Genetics 1 0 1 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 2
GeneReviews 1 0 0 0 0 1 2
Fulgent Genetics, Fulgent Genetics 1 0 0 1 0 0 2
Revvity Omics, Revvity 0 1 0 0 0 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
3billion 1 0 0 0 0 0 1

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