ClinVar Miner

Variants in gene FREM2

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
95 61 1151 1153 201 22 2490

Condition and significance breakdown #

Total conditions: 32
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 76 9 330 1075 179 0 1614
Isolated cryptophthalmia; Fraser syndrome 2 1 30 445 47 2 0 523
Inborn genetic diseases 0 0 471 21 0 0 492
Fraser syndrome 2 19 10 241 30 80 0 377
FREM2-related disorder 1 5 25 82 16 0 129
not specified 0 0 22 18 43 0 78
Fraser syndrome 1 3 7 3 0 6 0 19
Isolated cryptophthalmia 4 1 1 0 5 0 11
Uterine corpus endometrial carcinoma 0 0 0 0 0 5 5
Congenital anomaly of kidney and urinary tract 0 3 1 0 0 0 4
Congenital diaphragmatic hernia 2 2 0 0 0 0 4
Cervical cancer 0 0 0 0 0 3 3
Melanoma 0 0 0 0 0 3 3
Cholangiocarcinoma 0 0 0 0 0 2 2
Gastric cancer 0 0 0 0 0 2 2
Malignant tumor of esophagus 0 0 0 0 0 2 2
Microcephaly 0 0 2 0 0 0 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 2 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Childhood-onset schizophrenia 0 1 0 0 0 0 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Epidermolysis bullosa simplex with nail dystrophy 0 0 1 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Lung cancer 0 0 0 0 0 1 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Prostate cancer 0 0 1 0 0 0 1
Sarcoma 0 0 0 0 0 1 1
Schizophrenia 0 0 1 0 0 0 1
Toe syndactyly; Ambiguous genitalia; Unilateral renal agenesis; Cryptophthalmia; Abnormality of the anus; Finger syndactyly; Renal hypoplasia/aplasia; Cryptotia 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 73 6 214 1051 110 0 1454
Fulgent Genetics, Fulgent Genetics 1 26 440 38 2 0 507
Ambry Genetics 0 0 471 21 0 0 492
Illumina Laboratory Services, Illumina 0 0 232 30 78 0 340
GeneDx 2 2 78 3 68 0 153
PreventionGenetics, part of Exact Sciences 1 5 23 82 22 0 133
Breakthrough Genomics, Breakthrough Genomics 0 0 6 15 80 0 101
Eurofins Ntd Llc (ga) 1 0 42 4 16 0 63
CeGaT Center for Human Genetics Tuebingen 0 1 6 25 3 0 35
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 9 24 0 35
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 5 15 9 2 0 34
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 22 22
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 16 3 1 0 21
Genetic Services Laboratory, University of Chicago 0 0 9 5 3 0 17
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 2 4 10 0 17
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 5 8 2 0 16
Revvity Omics, Revvity 3 1 11 0 0 0 15
3billion 0 1 1 7 0 0 9
Daryl Scott Lab, Baylor College of Medicine 2 2 3 0 0 0 7
OMIM 7 0 0 0 0 0 7
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 3 3 0 0 6
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 3 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Gharavi Laboratory, Columbia University 0 0 5 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 2 3 0 0 0 5
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 4 1 0 0 0 0 5
Yale Center for Mendelian Genomics, Yale University 0 5 0 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 1 1 0 0 4
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 3 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 1 0 3
Mendelics 0 0 0 0 3 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 2
Department of Molecular Genetics, Istishari Arab Hospital 0 2 0 0 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 2 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 0 2
Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research 1 1 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 2
Medical Research Center, Medical College, Shaoxing University 2 0 0 0 0 0 2
Variantyx, Inc. 1 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Dasa 0 0 0 0 1 0 1
Department of Molecular Biology and Genetics, Acibadem University 0 0 1 0 0 0 1
Department of Psychiatry, The University of Hong Kong 0 0 1 0 0 0 1
Dr. Guy Rouleau's laboratory, McGill University 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 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
Istanbul Faculty of Medicine, Istanbul University 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 0 1

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