ClinVar Miner

Variants in gene CD2AP

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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 drug response total
9 10 250 109 77 4 427

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response total
not provided 5 0 97 89 55 0 236
Focal segmental glomerulosclerosis 3, susceptibility to 3 9 134 19 31 0 194
Inborn genetic diseases 0 0 45 3 0 0 48
Focal segmental glomerulosclerosis 0 0 28 8 3 0 39
not specified 0 0 2 5 17 0 24
CD2AP-related disorder 0 1 10 8 0 0 19
Corticosteroids response 0 0 0 0 0 4 4
Inherited focal segmental glomerulosclerosis 0 0 4 0 0 0 4
Focal segmental glomerulosclerosis 3 2 0 0 0 0 0 2
Kidney disorder 0 0 0 2 0 0 2
Prostate cancer 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response total
Labcorp Genetics (formerly Invitae), Labcorp 5 0 78 56 24 0 163
Illumina Laboratory Services, Illumina 0 0 75 10 33 0 118
Fulgent Genetics, Fulgent Genetics 2 6 79 14 0 0 101
GeneDx 0 0 0 32 33 0 65
Ambry Genetics 0 0 45 3 0 0 48
PreventionGenetics, part of Exact Sciences 0 1 10 13 9 0 33
Breakthrough Genomics, Breakthrough Genomics 0 0 17 16 0 0 33
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 4 6 1 0 11
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 9 0 9
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 3 0 0 0 5
CeGaT Center for Human Genetics Tuebingen 0 0 3 0 2 0 5
Genetic Testing Lab, Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences 0 0 0 0 0 4 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 4
OMIM 2 0 0 0 0 0 2
Baylor Genetics 0 0 2 0 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 2 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Prostate Cancer Research Center, Institute of Biosciences and Medical Technology, University of Tampere 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
3billion 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1

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