ClinVar Miner

Variants in gene FREM1

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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
13 4 217 67 96 6 365

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Oculotrichoanal syndrome 4 1 175 31 76 0 284
not provided 4 3 38 37 37 6 121
not specified 0 0 2 4 20 0 26
Trigonocephaly 2 2 0 5 0 0 0 7
BNAR syndrome 3 0 3 0 0 0 6
Inborn genetic diseases 1 0 1 0 0 0 2
Chronic kidney disease 0 0 1 0 0 0 1
Congenital anomalies of kidney and urinary tract 0 0 1 0 0 0 1
Congenital diaphragmatic hernia 0 0 1 0 0 0 1
Irido-corneo-trabecular dysgenesis; Rieger syndrome 0 0 0 1 0 0 1
Microcephaly 0 0 1 0 0 0 1
Oculotrichoanal syndrome; BNAR syndrome; Trigonocephaly 2 0 0 1 0 0 0 1
Trigonocephaly 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 1 174 31 75 0 281
Invitae 0 1 0 36 35 0 72
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 19 3 7 0 30
PreventionGenetics, PreventionGenetics 0 0 0 0 14 0 14
OMIM 9 0 0 0 0 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 6 1 0 0 8
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 8 0 0 0 8
Baylor Genetics 0 0 7 0 0 0 7
UniProtKB/Swiss-Prot 0 0 0 0 0 6 6
GeneDx 2 1 0 1 0 0 4
Gharavi Laboratory,Columbia University 0 0 3 0 0 0 3
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Ambry Genetics 1 0 1 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Mendelics 0 0 0 0 2 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 2
Lineagen, Inc 1 0 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 1 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
New York Genome Center 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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