ClinVar Miner

Variants in gene FREM2

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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
12 4 207 41 44 2 295

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Cryptophthalmos syndrome 1 0 160 33 29 0 222
not provided 1 1 52 1 3 0 58
not specified 0 0 2 7 19 0 28
FRASER SYNDROME 2 6 0 4 0 0 0 10
Congenital diaphragmatic hernia 0 2 0 0 0 2 4
Cryptophthalmos, unilateral or bilateral, isolated 4 0 0 0 0 0 4
Childhood-Onset Schizophrenia 0 1 0 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 1
Toe syndactyly; Ambiguous genitalia; Unilateral renal agenesis; Cryptophthalmos; Abnormality of the anus; Finger syndactyly; Renal hypoplasia/aplasia; Cryptotia 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Illumina Clinical Services Laboratory,Illumina 0 0 161 33 28 0 222
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 42 5 16 0 64
OMIM 7 0 0 0 0 0 7
GeneDx 1 1 5 0 0 0 7
PreventionGenetics 0 0 0 0 6 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
Genetic Services Laboratory, University of Chicago 0 0 2 2 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 0 0 0 0 2
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1

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