ClinVar Miner

Variants in gene ESCO2

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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 not provided total
107 57 199 346 56 25 708

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 101 24 80 331 49 0 573
Roberts-SC phocomelia syndrome 16 9 53 14 19 25 118
Roberts-SC phocomelia syndrome; Juberg-Hayward syndrome 12 28 64 2 0 0 105
Inborn genetic diseases 1 1 42 5 0 0 49
Roberts syndrome 6 1 0 13 3 0 23
ESCO2-related disorder 2 0 5 10 3 0 20
not specified 0 0 3 3 10 0 16
Juberg-Hayward syndrome 1 0 0 0 2 0 3
Hereditary breast ovarian cancer syndrome 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 98 17 65 308 17 0 505
Fulgent Genetics, Fulgent Genetics 11 28 64 1 0 0 104
Illumina Laboratory Services, Illumina 0 0 46 9 13 0 68
GeneDx 3 1 2 18 34 0 58
Ambry Genetics 1 1 42 5 0 0 49
Natera, Inc. 6 2 5 18 12 0 43
GeneReviews 2 0 0 0 0 25 27
Breakthrough Genomics, Breakthrough Genomics 0 1 2 7 17 0 27
PreventionGenetics, part of Exact Sciences 2 0 4 11 6 0 23
Eurofins Ntd Llc (ga) 1 0 11 1 5 0 18
Genetic Services Laboratory, University of Chicago 4 1 6 1 1 0 13
Revvity Omics, Revvity 2 5 3 0 0 0 10
OMIM 8 0 0 0 0 0 8
CeGaT Center for Human Genetics Tuebingen 1 0 1 5 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 1 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 1 0 1 0 0 3
Genome-Nilou Lab 0 0 0 1 2 0 3
Baylor Genetics 1 1 0 0 0 0 2
3billion 1 0 0 1 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 1 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 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 1 0 0 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 1 0 0 0 0 0 1
Molecular Oncology Research Center, Barretos Cancer Hospital 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1

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