ClinVar Miner

Variants studied for Cerebral cavernous malformation 2

Coded as:
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
77 13 56 53 26 9 226

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 69 11 56 52 25 8 214
CCM2, LOC129998395 5 2 0 1 0 1 8
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: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 60 7 49 51 25 0 192
OMIM 15 0 0 0 0 0 15
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 0 3 10 0 15
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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 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 2 0 0 0 3
Fulgent Genetics, Fulgent Genetics 2 0 0 1 0 0 3
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
3billion 2 0 0 0 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
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 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
Neurology, Zhongshan Hospital Affiliated to Xiamen University 1 0 0 0 0 0 1

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