ClinVar Miner

Variants in gene EFEMP2

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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
26 18 231 229 27 9 490

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cutis laxa, autosomal recessive, type 1B 26 13 132 175 18 0 343
Cardiovascular phenotype 1 1 137 93 10 0 242
not provided 2 5 40 45 13 0 100
not specified 0 0 16 28 8 0 48
EFEMP2-related disorder 0 0 5 10 0 0 15
Cutis laxa, autosomal recessive, type 1A 0 0 0 0 0 9 9
Familial thoracic aortic aneurysm and aortic dissection 0 0 1 2 4 0 7
Cutis Laxa, Recessive 0 0 3 0 0 0 3
Cutis laxa 0 1 0 0 0 0 1
Familial aortopathy 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 15 8 112 169 15 0 319
Ambry Genetics 1 1 137 93 10 0 242
GeneDx 1 5 34 42 11 0 93
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 2 16 20 8 0 48
Illumina Laboratory Services, Illumina 0 0 22 4 5 0 31
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 10 11 5 0 27
PreventionGenetics, part of Exact Sciences 0 0 5 10 2 0 17
Breakthrough Genomics, Breakthrough Genomics 0 0 0 7 10 0 17
CeGaT Center for Human Genetics Tuebingen 1 0 5 7 0 0 13
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 7 2 0 10
OMIM 9 0 0 0 0 0 9
GeneReviews 0 0 0 0 0 9 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 5 3 0 9
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 0 1 2 4 0 7
Fulgent Genetics, Fulgent Genetics 0 1 5 1 0 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 1 3 0 5
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 0 3 2 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 3 2 0 5
Revvity Omics, Revvity 0 1 3 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 1 2 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 1 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 1 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Eurofins Ntd Llc (ga) 1 0 0 0 0 0 1
Blueprint Genetics 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1

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