ClinVar Miner

Variants in gene FREM2

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 risk factor total
18 8 298 93 106 2 480

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Fraser syndrome 2 12 1 238 30 79 0 359
not provided 2 3 60 63 47 0 159
not specified 0 0 2 7 19 0 28
Fraser syndrome 1 0 1 15 2 7 0 25
Congenital diaphragmatic hernia 0 2 0 0 0 2 4
Cryptophthalmos, unilateral or bilateral, isolated 4 0 0 0 0 0 4
Microcephaly 0 0 2 0 0 0 2
Childhood-Onset Schizophrenia 0 1 0 0 0 0 1
Congenital anomalies of kidney and urinary tract 0 0 1 0 0 0 1
Epidermolysis bullosa simplex with nail dystrophy 0 0 1 0 0 0 1
Malignant tumor of prostate 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: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Illumina Clinical Services Laboratory,Illumina 0 0 249 32 79 0 360
Invitae 0 0 0 61 47 0 108
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 42 5 16 0 64
GeneDx 1 2 5 1 0 0 9
OMIM 7 0 0 0 0 0 7
PreventionGenetics, PreventionGenetics 0 0 0 0 6 0 6
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 5 1 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 3 0 5
Gharavi Laboratory,Columbia University 0 0 5 0 0 0 5
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 4 1 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 0 0 2 2 0 0 4
Mendelics 0 0 0 0 4 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 3 0 0 0 4
Daryl Scott Lab,Baylor College of Medicine 0 2 0 0 0 2 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 3 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 3
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 1 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
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Dr. Guy Rouleau's laboratory,McGill University 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Department of Molecular Biology and Genetics,Istanbul Technical University 0 0 1 0 0 0 1
Sydney Genome Diagnostics,Children's Hospital Westmead 0 0 1 0 0 0 1

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