ClinVar Miner

Variants studied for Cerebral cavernous malformation 3

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
61 6 28 15 6 10 124

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PDCD10 59 6 26 15 5 10 119
LOC129937857, PDCD10 0 0 2 0 0 0 2
PDCD10, SERPINI1 1 0 0 0 1 0 2
LOC129937855, PDCD10 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 52 2 14 13 4 0 85
Illumina Laboratory Services, Illumina 0 0 12 1 3 0 16
Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald 0 0 0 0 0 9 9
OMIM 6 0 0 0 0 0 6
Baylor Genetics 2 0 1 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Revvity Omics, Revvity 0 1 0 0 0 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Medicine Lab, University of California San Francisco 1 0 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
3billion 1 0 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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